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
RS1461067691 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS146106964 TEP1 Health Risk Conflicting classifications of pathogenicity —
RS146109825 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS146111631 LAMA1 Health Risk Conflicting classifications of pathogenicity LAMA1-related disorder, LAMA1-related disorder
RS146111714 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II
RS146112081 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS1461124319 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS146113366 DTNBP1 Health Risk Conflicting classifications of pathogenicity —
RS146113445 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS146113610 VRK1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Pontocerebellar hypoplasia type 1A
RS146113849 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, NECTIN1-related disorder
RS146114074 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS1461143773 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1461145750 LCAT Health Risk Likely pathogenic LCAT-related disorder, LCAT-related disorder
RS1461150815 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1461154048 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS146115467 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS146115506 RFX6 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, RFX6-related disorder
RS146115536 STAT2 Health Risk Likely risk allele Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
RS146115797 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Inborn genetic diseases
RS146115809 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Colorectal adenoma
RS146116228 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS1461166570 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1461167778 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS146117200 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, TSEN2-related disorder
RS146117456 STS Health Risk Conflicting classifications of pathogenicity —
RS146118033 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS146119145 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Inborn genetic diseases
RS146119866 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS146119949 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS1461200360 PMPCB Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
RS1461201353 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS146120136 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1461208460 OTOF Health Risk Pathogenic —
RS146121135 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS146121276 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS146121822 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 23
RS146122020 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS146122441 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1461226043 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS146123023 LRMDA Health Risk Conflicting classifications of pathogenicity —
RS1461242610 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1461242879 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS146124466 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS1461244817 CAD Health Risk Conflicting classifications of pathogenicity —
RS146125558 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS146125583 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, EHMT1-related disorder
RS146125672 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS1461258854 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group C
RS146125956 LAMB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1461272672 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS146127444 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS146127619 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Joubert syndrome 21
RS146128231 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS146129084 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS146129485 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1461307621 TECRL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3
RS146131050 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group B
RS146131512 GLIS3 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Neonatal diabetes mellitus with congenital hypothyroidism
RS146131711 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS1461319754 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS146132083 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Autosomal dominant nonsyndromic hearing loss 6
RS146133231 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS1461335018 PDZD7 Health Risk Pathogenic —
RS1461336062 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS146133764 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS146133928 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS146133956 ARFGEF1 Health Risk Pathogenic Delayed speech and language development, Atypical behavior
RS146134172 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS146134173 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS146134293 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1461345139 PEX19 Health Risk Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS146135801 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS146136265 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS146136560 KRT5 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Inborn genetic diseases
RS1461373436 ACAD9 Health Risk Pathogenic —
RS146137419 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1461376582 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1461382798 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1461385164 PDGFRA Health Risk Conflicting classifications of pathogenicity Idiopathic hypereosinophilic syndrome, Gastrointestinal stromal tumor
RS1461391769 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS146139327 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1461400697 PROM1 Health Risk Pathogenic —
RS146140125 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SZT2-related disorder
RS146140738 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS1461411104 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1461414910 LOXHD1 Health Risk Pathogenic —
RS1461422008 CLCNKB Health Risk Pathogenic —
RS146142715 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS146143252 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS146143836 HMCN1 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS146143890 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Duane-radial ray syndrome
RS146144708 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
RS146145321 SLC12A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146145357 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS146145627 CSF1R Health Risk Conflicting classifications of pathogenicity CSF1R-related disorder, CSF1R-related disorder
RS1461457058 TBK1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS146145709 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 43, PDE6A-related disorder
RS146145710 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS1461468531 DEAF1 Health Risk Conflicting classifications of pathogenicity —
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