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
RS117730996 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS1177318115 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1177326550 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1177326558 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS117735243 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS1177353484 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1177354745 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS1177355814 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS1177361428 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1177373078 PJVK Health Risk Pathogenic —
RS1177373744 MTMR2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1177405905 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1177406324 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1177414657 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS1177431007 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, BBS2-related disorder
RS1177433867 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1177447151 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1177463640 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, CYP27A1-related disorder
RS1177468816 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS117747744 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1177481438 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS117749531 BAG3 Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS117751044 KIF12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1177558417 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS1177564212 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1177575798 PROM1 Health Risk Pathogenic —
RS1177577061 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS117758105 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS1177608611 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS117762142 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS1177622557 PDZD7 Health Risk Pathogenic —
RS1177678117 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS117767901 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS11777194 OPLAH Health Risk Conflicting classifications of pathogenicity 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS1177728492 BMPR1B Health Risk Likely pathogenic Acromesomelic dysplasia 3, Acromesomelic dysplasia 3
RS1177729406 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS117774280 RTTN Health Risk Conflicting classifications of pathogenicity RTTN-related disorder, RTTN-related disorder
RS1177764199 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS117777759 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1177781586 MYBPC3 Health Risk Likely pathogenic —
RS1177784082 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS1177789326 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS1177793851 CDH11 Health Risk Likely pathogenic —
RS1177799464 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1177810382 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Ovarian cancer
RS117782882 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, Ovarian serous cystadenocarcinoma
RS1177831483 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1177831852 PDZD7 Health Risk Pathogenic/Likely pathogenic —
RS117784577 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1177851177 ADAMTS3 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 3, Hennekam lymphangiectasia-lymphedema syndrome 3
RS1177859298 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1177877033 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS117788141 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS1177885503 LOXHD1 Health Risk Pathogenic/Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS117788795 TEX15 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 25, TEX15-related disorder
RS1177891822 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1177898071 PSMC3 Health Risk Pathogenic Neurodevelopmental delay, Severe sensorineural hearing impairment
RS1177908281 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1177916529 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1177923180 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS117793540 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency
RS1177936172 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS1177939839 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1177954052 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1177963598 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1177965342 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS117796773 IL17F Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS1177973989 AP3B2 Health Risk Conflicting classifications of pathogenicity —
RS1177976401 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS1178005151 CYP2U1 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 56
RS1178007598 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Fumarase deficiency
RS117800773 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS1178008902 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1178017685 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1178020687 RERE Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without anomalies of the brain, eye
RS1178023478 SLC38A8 Health Risk Likely pathogenic —
RS1178033234 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1178037334 NAXE Health Risk Pathogenic —
RS117803903 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1178041263 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS117806701 CNGB3 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Achromatopsia
RS1178073729 LAMA1 Health Risk Pathogenic —
RS1178075388 MYO15A Health Risk Likely pathogenic —
RS117808169 KCNJ8 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Syndromic disease
RS1178102382 PHOX2A Health Risk Pathogenic Fibrosis of extraocular muscles, congenital
RS1178103200 DRAM2 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Cone-rod dystrophy
RS1178109063 EIF2AK3 Health Risk Pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS1178118885 COL12A1 Health Risk Likely pathogenic Bethlem myopathy 2, Bethlem myopathy 2
RS117815481 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1178157004 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1178162893 ZNF668 Health Risk Pathogenic marked facial dysmorphism, Profound global developmental delay
RS117818460 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS1178184685 FAM161A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 28
RS1178187217 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1178203514 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1178206789 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1178219050 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1178242443 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1178243254 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 5
RS1178244073 GABBR2 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
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