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
RS1209634994 CRX Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1209665716 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Hearing loss
RS1209702636 TCN1 Health Risk Pathogenic Transcobalamin I deficiency, Transcobalamin I deficiency
RS1209722075 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1209723048 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1209724722 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1209746484 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1209752961 RYR2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1209773827 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1209777415 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1209782193 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1209791630 CSF1R Health Risk Conflicting classifications of pathogenicity CSF1R-related disorder, CSF1R-related disorder
RS1209807088 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS1209824182 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1209831572 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1209836295 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1209837469 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1209839076 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1209865046 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Heterotopia
RS1209865784 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS1209867958 MYO15A Health Risk Pathogenic —
RS1209869642 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1209887739 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1209914140 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS1209918065 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1209943415 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1209943477 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1209953579 SFTPC Health Risk Likely pathogenic Surfactant metabolism dysfunction, pulmonary
RS1209988199 NAGLU Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1210016465 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1210017336 NOTCH3 Health Risk Likely pathogenic —
RS1210035894 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS1210040661 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS1210045384 FA2H Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS1210056357 SETX Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Amyotrophic lateral sclerosis type 4
RS1210062863 SOX18 Health Risk Pathogenic Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
RS1210072810 PAX3 Health Risk Likely pathogenic —
RS1210103414 BICRA Health Risk Likely pathogenic —
RS1210104601 PROM1 Health Risk Pathogenic Cone-rod dystrophy 12, Cone-rod dystrophy 12
RS1210118895 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1210146657 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Nephropathic cystinosis
RS1210153519 NUP214 Health Risk Pathogenic/Likely pathogenic Encephalopathy, acute
RS1210158408 GANAB Health Risk Pathogenic Autosomal dominant polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS1210169174 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS1210180190 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1210181271 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS1210195937 MAF Health Risk Conflicting classifications of pathogenicity Cataract 21 multiple types, Ayme-Gripp syndrome
RS1210212980 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1210217648 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1210217999 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1210239952 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS12102534 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS1210263161 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 45
RS1210297170 FSIP2 Health Risk Likely pathogenic —
RS1210302322 CYB5R3 Health Risk Pathogenic Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
RS1210305963 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1210314134 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS1210344296 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS1210347209 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1210348558 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1210377071 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS1210398083 ETV6 Health Risk Pathogenic Inborn genetic diseases, Thrombocytopenia 5
RS1210404401 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1210404526 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1210405923 POLE Health Risk Likely pathogenic —
RS1210414674 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1210418849 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1210431144 SHANK1 Health Risk Pathogenic/Likely pathogenic SHANK1-associated disorder, SHANK1-associated disorder
RS1210441433 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1210455950 MSH3 Health Risk Likely pathogenic —
RS1210475838 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1210495852 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1210505160 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1210539710 CERKL Health Risk Pathogenic —
RS1210551886 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS1210552017 NPHP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome with renal defect, Nephronophthisis
RS1210578940 RIPOR2 Health Risk Conflicting classifications of pathogenicity RIPOR2-related disorder, RIPOR2-related disorder
RS1210581905 CEP78 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss
RS1210583991 PLCD1 Health Risk Pathogenic Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3
RS1210587929 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1210590064 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1210590639 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1210592462 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1210600080 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1210612295 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1210616219 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1210620444 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1210621191 CACNA2D4 Health Risk Conflicting classifications of pathogenicity —
RS1210626722 PHKA2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS12106280 TGM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TGM6-related disorder
RS1210649507 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS1210663110 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1210666598 COL17A1 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Epithelial recurrent erosion dystrophy
RS1210674261 CFH Health Risk Pathogenic/Likely pathogenic/Pathogenic, low penetrance Factor H deficiency, Age related macular degeneration 4
RS1210700121 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1210700951 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1210713719 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS1210717639 TUBB3 Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS1210722098 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS12107254 ARHGAP31 Health Risk Conflicting classifications of pathogenicity ARHGAP31-related disorder, Inborn genetic diseases
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