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
RS1487432642 OTOF Health Risk Pathogenic/Likely pathogenic Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment
RS1487432916 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS148743316 LOXL3 Health Risk Conflicting classifications of pathogenicity —
RS148744436 KANK1 Health Risk Conflicting classifications of pathogenicity KANK1-related disorder, KANK1-related disorder
RS1487446205 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1487450999 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS148745414 ARL6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 55, Bardet-Biedl syndrome 3
RS148745997 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS148746224 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1487466505 PPM1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148747022 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS1487476449 COL7A1 Health Risk Pathogenic —
RS1487477220 GNPAT Health Risk Pathogenic —
RS1487483670 PRIM1 Health Risk Pathogenic Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, Seckel syndrome
RS148748724 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, MCOLN1-related disorder
RS148748781 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1487490244 POT1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1487491068 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS148749290 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS148749736 ARSH Health Risk Conflicting classifications of pathogenicity —
RS148749888 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS148749994 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, KIF7-related disorder
RS1487503835 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS148751867 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS1487519669 CCBE1 Health Risk Likely pathogenic Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS148752066 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS148752234 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS148752352 CLRN1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3, Usher syndrome type 3A
RS148752831 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS1487531695 NDUFAF5 Health Risk Pathogenic —
RS148753593 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS1487540503 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1487548809 CFAP20 Health Risk Likely pathogenic Rod-cone dystrophy, Rod-cone dystrophy
RS1487550618 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS148755083 IL36RN Health Risk Pathogenic/Likely pathogenic Generalized pustular psoriasis, Autoinflammatory syndrome
RS1487555931 TULP1 Health Risk Pathogenic —
RS148755655 UGT1A1 Health Risk Conflicting classifications of pathogenicity Gilbert syndrome, Crigler-Najjar syndrome
RS148756522 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS1487568635 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1487577386 WNT10A Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS148758785 PDHX Health Risk Conflicting classifications of pathogenicity PDHX-related disorder, PDHX-related disorder
RS148758906 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1487589344 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS148759214 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS148759919 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS148759949 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS148761230 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS148763371 TRPM4 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Progressive familial heart block type IB
RS1487638242 COL6A2 Health Risk Likely pathogenic —
RS148764188 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS148764264 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS148764840 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS148765149 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1487660277 GDF1 Health Risk Pathogenic —
RS1487665337 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS148766950 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DMXL2-related disorder
RS1487673182 PLD1 Health Risk Likely pathogenic Cardiac valvular defect, developmental
RS148767682 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1487680236 MUSK Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS1487693460 CC2D2A Health Risk Likely pathogenic —
RS148770294 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS148770452 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS148770543 MFAP5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, MFAP5-related disorder
RS148770948 ARFGEF2 Health Risk Conflicting classifications of pathogenicity ARFGEF2-related disorder, Periventricular heterotopia with microcephaly
RS1487715574 WFS1 Health Risk Pathogenic —
RS148772659 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS148773718 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases
RS1487742962 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS148774506 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS148774882 SEMA5A Health Risk Conflicting classifications of pathogenicity —
RS148775168 STAT1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS148775220 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1487757753 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS148776624 RNF213 Health Risk Conflicting classifications of pathogenicity Moyamoya disease 2, See cases
RS148776783 SCNN1G Health Risk Conflicting classifications of pathogenicity —
RS148777544 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1487775766 EYS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148778122 PTH1R Health Risk Conflicting classifications of pathogenicity Primary failure of tooth eruption, Eiken syndrome
RS1487781332 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148778319 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS148778436 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS148778842 APOA5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1487802284 MMUT Health Risk Pathogenic —
RS1487803250 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS1487808056 SRD5A3 Health Risk Pathogenic —
RS1487809821 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS148781346 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1487813766 PGAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148781420 COL4A1 Health Risk Conflicting classifications of pathogenicity COL4A1-related disorder, Brain small vessel disease 1 with or without ocular anomalies
RS1487814687 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS148782148 PKP4 Health Risk Conflicting classifications of pathogenicity —
RS148782406 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS148782717 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS148782895 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS148783445 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1487834487 MMP21 Health Risk Pathogenic Heterotaxy, visceral
RS1487836380 ATP2B2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS148784027 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1487842051 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS148784343 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, Inborn genetic diseases
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