SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1343140664 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1343140692 CD46 Health Risk Pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS1343145658 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1343148883 OTOGL Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS1343161886 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1343170313 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1343177940 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1343179190 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1343199316 COL11A1 Health Risk Pathogenic/Likely pathogenic —
RS1343207038 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1343210471 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1343211837 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1343212063 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1343231277 BAG3 Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1343240837 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS1343243319 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1343246818 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS1343260515 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1343295267 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, SMAD3-related disorder
RS1343296636 PEPD Health Risk Likely pathogenic —
RS1343304057 SPTB Health Risk Pathogenic —
RS1343309278 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1343328054 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1343336951 SORL1 Health Risk Pathogenic —
RS1343339242 NBAS Health Risk Pathogenic —
RS1343341933 BMP2 Health Risk Pathogenic —
RS1343346566 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1343361571 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS1343381340 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1343390851 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1343400778 KCNJ11 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1343417772 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1343418411 TRPM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1343422507 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS1343435250 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1343441680 GALNT3 Health Risk Pathogenic —
RS1343463467 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1343494916 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1343506367 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1343536158 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1343555503 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1343563508 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1343579561 GREB1L Health Risk Conflicting classifications of pathogenicity Renal cortical hyperechogenicity, Renal hypodysplasia/aplasia 3
RS1343581366 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS1343583459 TSHR Health Risk Likely pathogenic —
RS1343614760 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1343618467 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1343626760 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1343630556 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS1343632105 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1343634751 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1343645070 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1343647718 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1343660563 TTN Health Risk Conflicting classifications of pathogenicity —
RS1343667900 ABCB4 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 3, ABCB4-related disorder
RS1343672462 FIG4 Health Risk Likely pathogenic —
RS1343679884 PNKP Health Risk Likely pathogenic —
RS1343680080 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Inborn genetic diseases
RS1343702415 SBF2 Health Risk Likely pathogenic —
RS1343729760 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1343744787 CDHR1 Health Risk Pathogenic —
RS1343749498 TMEM126A Health Risk Pathogenic —
RS1343775223 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1343780391 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome type 2A
RS1343783336 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1343784849 HSD3B7 Health Risk Conflicting classifications of pathogenicity —
RS1343793848 PRDM5 Health Risk Conflicting classifications of pathogenicity —
RS1343799019 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1343828094 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS1343829959 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1343840421 CUL3 Health Risk Pathogenic Neurodevelopmental disorder without autism with seizures, Neurodevelopmental disorder without autism with seizures
RS1343867350 IMPDH1 Health Risk Pathogenic —
RS1343869103 FLNC Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1343871627 ATP6V1B1 Health Risk Likely pathogenic —
RS1343881428 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS1343900269 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1343928865 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Inborn genetic diseases
RS1343931250 SLC24A5 Health Risk Pathogenic/Likely pathogenic —
RS1343936087 CYP27A1 Health Risk Pathogenic —
RS1343936481 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1343944955 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS1343990349 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS1344008575 COL18A1 Health Risk Pathogenic —
RS1344017069 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS1344019160 STRC Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS1344047706 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS1344063890 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1344095646 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1344099907 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2
RS1344100742 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1344104003 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1344107562 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1344117870 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS1344124533 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1344126455 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS1344137236 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Retinal dystrophy
RS1344172059 ABCC8 Health Risk Likely pathogenic 12 conditions, 12 conditions
RS1344194115 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
RS1344198103 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS1344204097 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
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