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
RS1000050918 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS1000055196 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS1000091588 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Distal spinal muscular atrophy
RS1000098671 FLNB Health Risk Pathogenic See cases, See cases
RS1000113630 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1000152328 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1000209105 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1000274245 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Melanoma
RS1000291485 ABCG8 Health Risk Pathogenic Sitosterolemia 1, Sitosterolemia 1
RS1000294766 CDH11 Health Risk Pathogenic Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2
RS1000303487 PLA2G6 Health Risk Likely pathogenic PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14
RS1000398743 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1000426939 RP2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS1000441003 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Dent disease type 2
RS1000458475 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS1000466404 COL2A1 Health Risk Likely pathogenic —
RS1000501472 GUCY2D Health Risk Likely pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1000602230 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1000615556 OTOG Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18B, Rare genetic deafness
RS1000624148 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1000649173 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS1000651886 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1000661675 SI Health Risk Pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1000669774 XPC Health Risk Likely pathogenic —
RS1000697114 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1000702910 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1000712587 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS10007569 TRMT10A Health Risk Conflicting classifications of pathogenicity Microcephaly, short stature
RS1000800098 GRIN2A Health Risk Likely pathogenic —
RS1000861056 CNGB3 Health Risk Pathogenic Achromatopsia, Achromatopsia 3
RS1000881595 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1000886583 PARS2 Health Risk Likely pathogenic —
RS1000891879 MCCC1 Health Risk Likely pathogenic Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1000912264 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1000937138 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS1000961266 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1000977139 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS1001016233 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Inborn genetic diseases
RS1001063455 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1001095861 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1001100248 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1001134677 PPM1D Health Risk Conflicting classifications of pathogenicity —
RS1001151383 CRX Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1001153999 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS1001164504 FIGLA Health Risk Pathogenic Premature ovarian failure 6, Premature ovarian failure 6
RS1001200905 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1001211672 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1001221917 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1001248677 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS1001249688 KCNQ4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1001275411 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1001293702 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Atrial fibrillation
RS1001297917 PTDSS1 Health Risk Conflicting classifications of pathogenicity —
RS1001298373 ACADS Health Risk Likely pathogenic —
RS1001301633 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1001303564 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1001403179 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1001405220 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1001434106 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1001497433 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS1001523088 MYO15A Health Risk Pathogenic/Likely pathogenic Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 3
RS1001570418 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS1001637675 SFTPB Health Risk Likely pathogenic Surfactant metabolism dysfunction, pulmonary
RS1001642335 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, FOXG1 disorder
RS1001642956 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1001703993 PPOX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1001774733 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1001786208 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1001831519 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS1001854457 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS1001866915 HSD17B4 Health Risk Likely pathogenic HSD17B4-related disorder, HSD17B4-related disorder
RS1001873841 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, KCNJ11-related disorder
RS1001885245 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1001916923 ABCC9 Health Risk Likely pathogenic —
RS1001955490 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1001965936 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS1001969191 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS1001973468 GMPPA Health Risk Likely pathogenic —
RS1002006336 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1002017728 FZR1 Health Risk Pathogenic Developmental and epileptic encephalopathy 109, Developmental and epileptic encephalopathy 109
RS1002032036 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1002070797 ABCC8 Health Risk Likely pathogenic —
RS1002074448 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1002088882 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1002095432 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1002108827 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1002115521 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1002125753 CTCF Health Risk Pathogenic/Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS1002126692 COL18A1 Health Risk Conflicting classifications of pathogenicity COL18A1-related disorder, COL18A1-related disorder
RS1002136018 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS1002160828 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1002244829 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1002320182 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Inborn genetic diseases
RS1002352692 TGFBR2 Health Risk Conflicting classifications of pathogenicity Diabetic retinopathy, Diabetic retinopathy
RS1002373357 PROM1 Health Risk Pathogenic/Likely pathogenic —
RS1002380887 HNF1A Health Risk Uncertain significance/Uncertain risk allele Nonpapillary renal cell carcinoma, Maturity-onset diabetes of the young
RS1002385454 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Infantile hypophosphatasia
RS1002386392 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1002403677 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1002433115 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
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