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
RS1357854800 MFRP Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1357890818 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1357894483 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1357906793 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS1357917630 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, PDCD10-related disorder
RS1357918249 ACE Health Risk Conflicting classifications of pathogenicity Microvascular complications of diabetes, susceptibility to
RS1357930157 HTRA1 Health Risk Conflicting classifications of pathogenicity CARASIL syndrome, Cerebral arteriopathy
RS1357935457 ITGAV Health Risk Pathogenic ITGAV deficiency, IMMUNE DYSREGULATION
RS1357935702 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1357937176 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1357942068 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1357942538 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1357978246 SLITRK2 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, X-linked 111
RS1357982637 INTS1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1358016801 TRAF3IP1 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 9, Senior-Loken syndrome 9
RS1358028598 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1358028812 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1358047518 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS1358056232 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1358061279 SCO2 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS1358069294 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Lowe syndrome
RS1358085095 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1358155595 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1358181248 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1358182981 ITGA8 Health Risk Likely pathogenic —
RS1358186613 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1358214886 TRMT10A Health Risk Likely pathogenic —
RS1358228134 TJP2 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1358240975 EIF2AK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1358266880 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1358275550 EPO Health Risk Pathogenic Diamond-Blackfan anemia-like, Diamond-Blackfan anemia-like
RS1358278568 COL4A3 Health Risk Likely pathogenic —
RS1358283016 CNGB3 Health Risk Pathogenic —
RS1358293369 VPS13A Health Risk Pathogenic —
RS1358301425 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1358358656 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1358370392 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1358372238 CEP63 Health Risk Pathogenic —
RS1358382637 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS1358384674 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1358404983 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS1358449243 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1
RS1358467254 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS1358484245 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1358487339 NR1D2 Health Risk Likely pathogenic Familial atrioventricular septal defect, Familial atrioventricular septal defect
RS1358497272 KDM1A Health Risk Conflicting classifications of pathogenicity Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Inborn genetic diseases
RS1358520224 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1358532875 LRP2 Health Risk Pathogenic/Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1358534877 GDF2 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1358535597 ITGAM Health Risk Conflicting classifications of pathogenicity —
RS1358550062 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1358557669 KIZ Health Risk Likely pathogenic —
RS1358566538 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1358581212 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS1358581771 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS1358586679 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1358592529 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS1358596567 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1358609309 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1358610598 TAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS1358613918 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1358617715 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1358618786 FGFR3 Health Risk Pathogenic Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 1
RS1358620767 ADSS1 Health Risk Pathogenic —
RS1358624171 COL4A4 Health Risk Likely pathogenic —
RS1358641287 OPTN Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 12, Glaucoma 1
RS1358651584 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1358658486 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1358670337 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1358682351 RARS1 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9
RS1358691399 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS1358692215 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1358722147 FLVCR1 Health Risk Pathogenic/Likely pathogenic —
RS1358743617 SNX14 Health Risk Likely pathogenic —
RS1358762917 MESD Health Risk Pathogenic —
RS1358774744 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS1358776988 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1358793834 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS1358834036 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1358854063 ADGRV1 Health Risk Pathogenic —
RS1358863856 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS1358903734 NAGA Health Risk Likely pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS1358917187 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1358918716 CC2D1A Health Risk Likely pathogenic —
RS1358919643 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS1358924141 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1358925739 CACNA1F Health Risk Pathogenic Congenital stationary night blindness, X-linked cone-rod dystrophy 3
RS1358933191 C1S Health Risk Pathogenic —
RS1358947010 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1358948221 MIR6511B1;PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1358966427 POT1 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1358994052 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1359016274 PIEZO2 Health Risk Pathogenic —
RS1359060187 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS1359084962 C7 Health Risk Likely pathogenic —
RS1359088166 BRAT1 Health Risk Pathogenic Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS1359089022 SAG Health Risk Pathogenic —
RS1359096117 F8 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1359098202 WNT10A Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS1359100897 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Ovarian cancer
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