SNPMiner Trials by Shray Alag

rs12979860 (38) rs6971 (31) rs9939609 (11) rs6265 (11) rs738409 (11) rs7903146 (8) rs4680 (8) rs8099917 (8) rs11200638 (6) rs429358 (6) rs10490924 (6) rs7412 (6) rs16969968 (5) rs25531 (5) rs1801133 (5) rs1800497 (5) rs1799971 (4) rs4244285 (4) rs2832407 (4) rs1045642 (4) rs1544410 (4) rs10033464 (3) rs1761667 (3) rs6166 (3) rs1042713 (3) rs2023239 (3) rs1051730 (3) rs174537 (3) rs1006737 (3) rs2230199 (3) rs1128503 (3) rs2231142 (3) rs10455872 (3) rs6313 (3) rs1061170 (3) rs776746 (3) rs4588 (3) rs2069514 (2) rs1799963 (2) rs9332739 (2) rs2032582 (2) rs3745274 (2) rs6295 (2) rs12936231 (2) rs6280 (2) rs7103572 (2) rs35599367 (2) rs13266634 (2) rs1410996 (2) rs6025 (2) rs4129267 (2) rs70991108 (2) rs174547 (2) rs1127354 (2) rs362331 (2) rs53576 (2) rs35705950 (2) rs641153 (2) rs1695 (2) rs2234246 (2) rs10741657 (2) rs1800955 (2) rs2106261 (2) rs4149056 (2) rs2234237 (2) rs362307 (2) rs3808607 (2) rs1828591 (2) rs1800470 (2) rs1024611 (2) rs12785878 (2) rs3751143 (2) rs762551 (2) rs165599 (2) rs2200733 (2) rs1150226 (2) rs4646 (2) rs3798220 (2) rs3813929 (2) rs25487 (2) rs10830963 (2) rs2472677 (2) rs2281135 (2) rs4986893 (2) rs3211938 (2) rs8050136 (2) rs1801131 (2) rs855791 (2) rs5219 (2) rs4646437 (2) rs2228570 (2) rs2070744 (1) rs1017783 (1) rs4986938 (1) rs2297201 (1) rs377637047 (1) rs2298771 (1) rs1799724 (1) rs7799039 (1) rs7041 (1) rs7586970 (1) rs8175347 (1) rs1799853 (1) rs1799732 (1) rs6190 (1) rs9344 (1) rs3918242 (1) rs7549785 (1) rs3796529 (1) rs10835211 (1) rs3570920 (1) rs1998199 (1) rs2274333 (1) rs78408340 (1) rs28363170 (1) rs2987983 (1) rs833069rs (1) rs41524547 (1) rs12529 (1) rs1042522 (1) rs11958940 (1) rs34743033 (1) rs13058338 (1) rs2043211 (1) rs5082 (1) rs6739405 (1) rs4958351 (1) rs6296 (1) rs3761624 (1) rs13333226 (1) rs179008 (1) rs4802703 (1) rs547154 (1) rs7521902 (1) rs867186 (1) rs641738 (1) rs2540923 (1) rs2297480 (1) rs1672717 (1) rs4869676 (1) rs10163409 (1) rs4869675 (1) rs236114 (1) rs6165 (1) rs700518 (1) rs11615 (1) rs3025039 (1) rs11795404 (1) rs3816527 (1) rs999737 (1) rs10836235 (1) rs1256049 (1) rs27072 (1) rs614367 (1) rs12434438 (1) rs137852620 (1) rs3853445 (1) rs35874116 (1) rs3747158 (1) rs1799930 (1) rs20432111 (1) rs5068 (1) rs1310182 (1) rs7604448 (1) rs20455 (1) rs1042714 (1) rs3114018 (1) rs2269273 (1) rs6269 (1) rs1042711 (1) rs2269272 (1) rs861529 (1) rs18011131 (1) rs9340799 (1) rs2235046 (1) rs316019 (1) rs10995190 (1) rs1260326 (1) rs4570625 (1) rs1042718 (1) rs2250656 (1) rs731236 (1) rs2307227 (1) rs41524745 (1) rs6841581 (1) rs1049353 (1) rs244072 (1) rs13208321 (1) rs35463555 (1) rs1052533 (1) rs3918226 (1) rs61747728 (1) rs4073 (1) rs904627 (1) rs2295190 (1) rs2053044 (1) rs10153820 (1) rs754203 (1) rs547987105 (1) rs2562582 (1) rs2494732 (1) rs619824 (1) rs8176528 (1) rs1360780 (1) rs833061 (1) rs16147 (1) rs72552763 (1) rs9679162 (1) rs2280964 (1) rs7975232 (1) rs1726866 (1) rs10813831 (1) rs6504950 (1) rs806380 (1) rs6856901 (1) rs45511401 (1) rs573562920 (1) rs3210140 (1) rs887829 (1) rs7221412 (1) rs628031 (1) rs20417 (1) rs2687133 (1) rs7579240 (1) rs174535 (1) rs679620 (1) rs2060793 (1) rs806377 (1) rs1800629 (1) rs66554220 (1) rs1800624 (1) rs3750920 (1) rs1042522s (1) rs10246939 (1) rs2550946 (1) rs2279744 (1) rs909253 (1) rs2071559 (1) rs1024582 (1) rs10930214 (1) rs13387042 (1) rs17601696 (1) rs2046210 (1) rs8065080 (1) rs4604006 (1) rs2002555 (1) rs757110 (1) rs2910164 (1) rs1061325 (1) rs4950928 (1) rs10994336 (1) rs11548193 (1) rs73049 (1) rs9457827 (1) rs1883112 (1) rs17782313 (1) rs12459419 (1) rs150018775 (1) rs708272 (1) rs2275163 (1) rs12762549 (1) rs10941679 (1) rs699947 (1) rs2895795 (1) rs2697153 (1) rs45500792 (1) rs30461 (1) rs550842646 (1) rs2067085 (1) rs1051931 (1) rs333 (1) rs3853839 (1) rs956572 (1) rs4900442 (1) rs3755166 (1) rs324015 (1) rs271924 (1) rs3758673 (1) rs3758674 (1) rs11572080 (1) rs4151667 (1) rs894278 (1) rs10859871 (1) rs2294918 (1) rs933226 (1) rs9657182 (1) rs571312 (1) rs20715592 (1) rs12201199 (1) rs1786378374 (1) rs13376333 (1) rs17070145 (1) rs17561 (1) rs34489327 (1) rs7571842 (1) rs11133360 (1) rs2235321 (1) rs678849 (1) rs8069645 (1) rs35059413 (1) rs6454674 (1) rs2853884 (1) rs737865 (1) rs183489969 (1) rs7333181 (1) rs1143623 (1) rs71647871 (1) rs4149032 (1) rs17037122 (1) rs1062613 (1) rs2516513 (1) rs1048661 (1) rs11126727 (1) rs11568821 (1) rs1049524 (1) rs11568820 (1) rs1049522 (1) rs172378 (1) rs10994133 (1) rs924607 (1) rs2488457 (1) rs1143633 (1) rs11039155 (1) rs1143634 (1) rs2464266 (1) rs396991 (1) rs562696473 (1) rs11126731 (1) rs8105790 (1) rs10509681 (1) rs12041331 (1) rs1805010 (1) rs6013897 (1) rs16139 (1) rs2234693 (1) rs35652124 (1) rs4693608 (1) rs961360700 (1) rs2305948 (1) rs4343 (1) rs5743844 (1) rs4883263 (1) rs10033900 (1) rs4883264 (1) rs2243250 (1) rs2241193 (1) rs17614942 (1) rs2383206 (1) rs1800592 (1) rs613872 (1) rs4803217 (1) rs11031006 (1) rs1047768 (1) rs12208357 (1) rs4488809 (1) rs1800588 (1) rs2227902 (1) rs1549339 (1) rs3184504 (1) rs2248949 (1) rs222797 (1) rs1643649 (1) rs4803455 (1) rs2853564 (1) rs780094 (1) rs2231137 (1) rs6434222 (1) rs3825942 (1) rs112735431 (1) rs751402 (1) rs9701796 (1) rs1202167 (1) rs1202168 (1) rs1202169 (1) rs12472215 (1) rs4311 (1) rs2279238 (1) rs3766404 (1) rs7349683 (1) rs3781727 (1) rs1800450 (1) rs7157609 (1) rs529802001 (1) rs2257401 (1) rs3817198 (1) rs1217414 (1) rs1045485 (1) rs2278392 (1) rs2476601 (1) rs7993418 (1) rs13181 (1) rs4673 (1) rs2097432 (1) rs324011 (1) rs1079598 (1) rs1800566 (1) rs1800682 (1) rs603965 (1) rs993607 (1) rs1790349 (1) rs1044396 (1) rs3742376 (1) rs6592052 (1) rs9332377 (1) rs16111115 (1) rs11559024 (1) rs1149222 (1) rs11870474 (1) rs25331 (1) rs2929116 (1) rs2929115 (1) rs7961953 (1) rs2242480 (1) rs4532 (1) rs222747 (1) rs105173 (1) rs2165241 (1) rs1800795 (1) rs2075606 (1) rs11648486 (1) rs35874116rs (1) rs4795541 (1) rs2282679 (1) rs7853758 (1) rs1504982 (1) rs1176713 (1) rs11249433 (1) rs12467815 (1) rs10524523 (1) rs4880 (1) rs12760457 (1) rs2062305 (1) rs3828057 (1) rs3790515 (1) rs11687951 (1) rs1800896 (1) rs254093 (1) rs4994 (1) rs4633 (1) rs1885988 (1) rs11099592 (1) rs6843082 (1) rs17611 (1) rs2228171 (1) rs1042173 (1) rs41432149 (1) rs926198 (1) rs12992677 (1) rs2305619 (1) rs1800888 (1) rs61729512 (1) rs2266782 (1) rs1653624 (1) rs664393 (1) rs2246704 (1) rs11959427 (1) rs4848306 (1) rs3765467 (1) rs2246709 (1) rs2089760 (1) rs2180439 (1) rs2242447 (1) rs2981582 (1) rs12654788 (1) rs5275 (1) rs1053230 (1) rs1906591 (1) rs2010963 (1) rs11102930 (1) rs2601126 (1) rs2854116 (1) rs2854117 (1) rs16944 (1) rs17778257 (1) rs16942 (1) rs1801282 (1) rs5751876 (1) rs762251 (1) rs3803662 (1) rs10264272 (1) rs28399433 (1) rs230561 (1) rs12654778 (1) rs4364254 (1) rs10177833 (1) rs2238071 (1) rs1801275 (1) rs10766197 (1) rs704010 (1) rs10937405 (1) rs2228480 (1) rs9526240 (1) rs17570669 (1) rs10407022 (1) rs4612666 (1) rs6746030 (1) rs889312 (1) rs243866 (1) rs2740565 (1) rs1558902 (1) rs8192620 (1) rs10865801 (1) rs58542926 (1) rs3789604 (1) rs1801260 (1) rs2273773 (1) rs10757274 (1) rs573112 (1) rs2244613 (1) rs10757278 (1) rs6330 (1) rs1056892 (1) rs11931074 (1) rs2075252 (1) rs1297860 (1) rs28459296 (1) rs2380205 (1) rs780094s (1) rs9557195 (1) rs11045585 (1) rs1801253 (1) rs1801132 (1) rs11569562 (1) rs2104772 (1) rs15524 (1) rs2854275 (1) rs2066842 (1) rs12255372 (1) rs6323 (1) rs1057910 (1) rs1051375 (1) rs544684689 (1) rs2234237r25r (1) rs6318 (1) rs9826 (1) rs7120118 (1) rs12356193 (1) rs8111699 (1) rs7270101 (1) rs17042171 (1) rs1062033 (1) rs553668 (1) rs185670819 (1) rs1405655 (1) rs6311 (1) rs518147 (1) rs10401969 (1) rs4516035 (1) rs33996649 (1) rs10276036 (1) rs1465952 (1) rs2232618 (1) rs549927573 (1) rs41308230 (1) rs2293152 (1) rs2237060 (1) rs5215 (1) rs4820059 (1) rs12329760 (1) rs12676 (1) rs11083519 (1) rs16874954 (1) rs35597368 (1) rs1799983 (1) rs5573 (1) rs2229774 (1) rs2731886 (1) rs5574 (1) rs2302616 (1) rs12221497 (1) rs4973768 (1) rs5569 (1) rs2032892 (1) rs13281615 (1) rs4820268 (1) rs10079250 (1) rs1799750 (1) rs9366637 (1) rs4148738 (1) rs10456542 (1) rs25648 (1) rs9984723 (1) rs766996587 (1) rs2398162 (1) rs7291050 (1) rs1011970 (1) rs4253728 (1) rs12143842 (1)

SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs45500792

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Effect of Dietary Protein and Energy Restriction in the Improvement of Insulin Resistance in Subjects With Obesity

The prevention of obesity and its main medical complications, such as hypertension, type 2 diabetes and cardiovascular diseases, have been become a health priority. One of the most frequent metabolic complications in obesity is the insulin resistance and is the most important risk factor for the development of coronary diseases. The weight loss induced by the restriction of dietary energy is the cornerstone of therapy for people with obesity, as it improves or even regularizes insulin sensitivity and related comorbidities. However, weight loss induced by diet also decreases lean tissue mass, which could result in adverse effects on physical function. Although, regularly recommended to increase protein intake during weight loss, there is evidence to suggest that high protein intake could have deleterious metabolic effects. On the other hand, there is an association between the type of protein consumption, mainly the concentration of branched-chain amino acids (BCAAs) and insulin resistance during the dietary energy restriction in the therapy of obesity. There are multiple factors that influence the concentration of BCAAs and insulin resistance, which can be by phenotypic or genetic modification. The phenotypic modification refers to race, sex and dietary pattern. Meanwhile, the genetic modification refers to the activity of the enzymes responsible for the catabolism of BCAAs and genetic variants, such as the polymorphisms of a single nucleotide of said enzymes. A randomized controlled trial will be conducted with 160 participants (80 women and 80 men) divided by a draw in 4 groups, each for 20 participants. A feeding plan will be assigned according to the distribution of proteins (standard or high) and type of protein (animal or vegetable). The main aim of this study is to evaluate the effect on the amount and type of dietary protein and energy restriction on insulin resistance in subjects with obesity in a period of 1 month, considering the main factors that influence the concentration of BCAAs. In this way, evidence will be provided on what type of dietary intervention is most convenient for weight loss in subjects with insulin resistance and obesity.

NCT03627104
Conditions
  1. Obesity
  2. Insulin Resistance
Interventions
  1. Dietary Supplement: Normoprotein diet with animal protein
  2. Dietary Supplement: Normoprotein diet with vegetable protein
  3. Dietary Supplement: High-protein diet with animal protein
  4. Dietary Supplement: High-protein diet with vegetable protein
MeSH:Obesity Insulin Resistance
HPO:Insulin resistance Obesity

Change of the HOMA index according to the presence or absence of polymorphism related to the metabolism of branched chain amino acids (rs11548193 and rs45500792).. HOMA (IR-HOMA) which is calculated glucose (mg / dl) x insulin (mUI / ml) / 405 before and after of dietary intervention.

Primary Outcomes

Description: Change in the index HOMA-IR. The HOMA IR index will be calculated by the following equation: glucose (mg / dl) x insulin (mUI / ml) / 405 before and after of dietary intervention

Measure: Resistance insulin

Time: Baseline to 1-month

Secondary Outcomes

Description: Change in the concentration of the amino acid profile, mainly of branched chain amino acids

Measure: Amino acid profile

Time: Baseline to 1-month

Description: Change in fat mass, lean mass and skeletal muscle mass percentage

Measure: Change in body composition

Time: Baseline to 1-month

Description: change in body weight before and after of dietary intervention

Measure: Change in body weight

Time: Baseline to 1-month

Description: Change in waist circumference before and after of dietary intervention

Measure: Change in waist circumference

Time: Baseline to 1-month

Description: Change in grip strength before and after the intervention by dynamometry

Measure: Change in grip strength

Time: Baseline to 1-month

Description: The respiratory coefficient will be determined by indirect calorimetry

Measure: Change in respiratory quotient

Time: Baseline to 1-month

Description: The concentration of serum glucose will be determined by autoanalyzer before and after the intervention

Measure: Change in glucose serum

Time: Baseline to 1-month

Description: The concentration of serum total cholesterol will be determined by autoanalyzer before and after the intervention

Measure: Change in total cholesterol serum

Time: Baseline to 1-month

Description: The concentration of serum HDL-cholesterol will be determined by autoanalyzer before and after the intervention

Measure: Change in HDL cholesterol serum

Time: Baseline to 1-month

Description: The concentration of serum triglycerides will be determined by autoanalyzer before and after the intervention

Measure: Change in triglycerides serum

Time: Baseline to 1-month

Description: The concentration of serum LDL cholesterol will be determined by autoanalyzer before and after the intervention

Measure: Change in LDL cholesterol serum

Time: Baseline to 1-month

Description: The concentration of free fatty acids will be determined before and after the intervention

Measure: Change in free fatty acids serum

Time: Baseline to 1-month

Description: The concentration of serum liver enzymes will be determined by autoanalyzer before and after the intervention

Measure: Change liver function tests

Time: Baseline to 1-month

Description: The concentration of serum leptin will be determined by ELISA kit before and after the intervention

Measure: Change in concentration of leptin serum

Time: Baseline to 1-month

Description: The concentration of serum adiponectin will be determined by ELISA kit before and after the intervention

Measure: Change in concentration of adiponectin serum

Time: Baseline to 1-month

Description: The concentration of serum C- reactive protein will be determined by autoanalyzer before and after the intervention

Measure: Change in the concentration of C-reactive protein

Time: Baseline to 1-month

Description: the blod pressure will be determined before and after the intervention

Measure: Change in systolic and diastolic blood pressure

Time: Baseline to 1-month

Description: HOMA (IR-HOMA) which is calculated glucose (mg / dl) x insulin (mUI / ml) / 405 before and after of dietary intervention

Measure: Change of the HOMA index according to the presence or absence of polymorphism related to the metabolism of branched chain amino acids (rs11548193 and rs45500792).

Time: Baseline to 1- month


HPO Nodes


HP:0001513: Obesity
Genes 522
NTRK2 BLK MERTK SH2B1 PROK2 MAGEL2 FEZF1 MEGF8 ALG13 CUL4B MAGEL2 BBIP1 AGTR2 ZNF711 GTF2IRD1 SLC9A7 SLC7A14 RP1 OFD1 CEP164 PHF21A FRMPD4 BRAF RTL1 PHF6 BBS1 FGFR3 CNNM2 GNAS PDE6A CNGB1 ARVCF HACE1 LIPE ZNF408 HNF4A WDR11 CTNNB1 EIF2S3 RREB1 TOPORS IFT172 OCA2 IFT172 LZTFL1 RBP3 ERMARD ARX SAG TMEM43 PAX4 ATP10A CEP290 UBE3A NDN NDN SYNE1 BBS10 H6PD DMD RAB39B FLRT3 PROKR2 RTL1 PCNT SIM1 TTC8 CLIP2 ABCC8 ELN TBX3 IGF1R HIRA GP1BB GNAS VPS13B OFD1 BAP1 EMD ADNP SEC24C ELN KLF11 TULP1 KIDINS220 GNAS KIF7 RNPC3 GHR SNRNP200 CLCN4 P4HTM AKT2 PRMT7 IFT74 GDI1 NEUROD1 SIN3A RTL1 HESX1 PTCHD1 C8ORF37 PDE4D WNT4 CREBBP NPAP1 PDE4D VPS13B SDC3 BBS4 SLC7A7 ARL6 RP9 IFT88 TMEM67 SLC10A7 RHO MYT1L BLM PDX1 NPHP1 ARL3 IFT27 RPGR FGFR1 PDE6B DLK1 ATP6AP2 MEG3 MC3R ZNF365 SNORD115-1 ZNF513 SRY BBS10 SOX3 SPRY4 RLBP1 RAB23 MKRN3-AS1 TSPAN7 ACADVL PDSS1 FAM161A FTSJ1 ROM1 PCSK1 SNRPN TTC8 FGF17 MAPK8IP3 SH2B1 IGF1 ZNF81 HUWE1 IDH3B BBIP1 PDE4D USP8 CACNA1S EGF FHL1 USP8 BEST1 KMT2A GNAS PWRN1 TBX3 IPW RP2 WDPCP KMT2D XYLT1 BBS9 ARNT2 APPL1 SUFU FGF8 PAK3 IMPDH1 SNRPN MEGF8 DHDDS EIF2S3 BAP1 GCK RAI1 MCM3AP SH2B1 RPE65 SNRPN ZBTB20 SMARCB1 NKAP SPATA7 HDAC8 P2RY11 WT1 XRCC4 PRMT7 ARHGEF18 BBS9 POMC HLA-DQB1 HS6ST1 TRIM32 WT1 CREBBP CANT1 OCA2 NR0B2 THOC2 LMNA KLHL7 STX16 SDCCAG8 RAD21 ALMS1 SEMA4A USH2A CERKL FMR1 TRAF7 CYP19A1 PAX6 TNFSF4 PTEN FGFR1 BBS7 DDX6 AFF4 MAGEL2 ACSL4 CHD7 CCDC141 PCNT PRPF8 MID2 GABRA3 BBS7 HNF1A KDM6A CDHR1 SNRPN HLA-DRB1 DYNC2I2 UBE3A TRIM32 MAGEL2 PWAR1 TRIP12 KCNJ11 EYS SYNE2 ARL6 SHOX TACR3 CNKSR2 CEP19 CLRN1 NIPBL SMAD4 NDN MTTP TCF20 USP9X MKRN3 ADRB3 SETD2 OCA2 MRAP2 ENPP1 DHX38 IFT172 ADRB2 CARTPT CUL4B SMO SNRPN DLK1 LEP CYP7A1 ARL2BP MAN1B1 PRCD IL1RAPL1 PRPH2 CDH23 NEK2 NSMF NDN REEP6 JMJD1C CREBBP AGBL5 PDGFB PROM1 TBX1 MTFMT MECP2 MAN1B1 GNAS LEPR TBL2 POMC SIM1 TBX1 BBS2 PIGT SDCCAG8 SPG11 EHMT1 IFT140 PNKP PSMD12 RFC2 GATA4 SNORD116-1 LEPR MKKS LMNA LIMK1 BLK MED12 BBS12 MKS1 PCSK1 SMARCE1 ABCA4 IDH3A EP300 BBS1 KIZ ATRX BBS5 BDNF TRAPPC9 IMPG2 HESX1 MKS1 PDE11A SIN3A SOX10 MAGEL2 SYP RPS6KA3 TBX1 ZNF41 KISS1R MEG3 STEEP1 IQSEC2 TRAF3IP1 TUB TAF1 ATRX PRDM16 UBE3A C8ORF37 DEAF1 LEP AFF4 UBE3A RAB23 DNMT3A COA3 USP27X IQSEC2 GHRL BPTF LAS1L INS ARL13B PHIP EXOC6B MECP2 SNRPN RERE OTX2 RBMX SIM1 PNPLA6 SKI WAC DPYD POGZ DCC IL17RD POMGNT1 PDE6G HDAC4 SLC25A4 ALMS1 POU3F4 AKT2 PAX6 CCDC141 TRAPPC9 SEMA3A AHI1 MC4R HACE1 TERT BBS2 PKDCC PIK3CA GABRD ARMC5 RP1L1 CRB1 CNGA1 EHMT1 ANOS1 NF2 LARS2 UFD1 HGSNAT SH3KBP1 ARMC5 UCP3 CCDC28B GTF2I MAGEL2 HSD11B1 SHANK3 BBS5 PRPF3 GUCA1B INPP5E PPARG IGFALS FTO GNAS SETD5 ARL6 BBS4 RAI1 XYLT1 TTC8 NR2E3 PCARE IFT172 MAK MEG3 ADCY3 UPF3B SMC1A NDN PROK2 SOX2 DUSP6 POMC HCFC1 COL10A1 MKKS SMC3 FSCN2 ADNP GNAS-AS1 CA4 ALB MC4R NIN SNRPN IFT27 AKT1 RGR AHR PRPF4 MOG HDAC8 HERC2 ZNF711 TUB NDNF LRAT CEP290 DLG3 DYRK1B SCAPER CRX EP300 DLK1 KIAA1549 KCNJ18 MAGEL2 PROKR2 MLXIPL KIDINS220 FXR1 LZTFL1 BBS12 PRPF31 IQSEC2 PRPF6 AGRP HCRT BBS2 MOG APOE GNAS NRL PRKAR1A BAZ1B LAS1L RDH12 ARL6 COMT HDAC8 FLII ARHGEF6 FOXP1 AIP KCNAB2 C8ORF37 PHF6 GNAS RPS6KA3 PRKAR1A CTSH CEL OCA2
Protein Mutations 3
G20210A P12A W64R