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
RS199865613 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hecht syndrome
RS199865688 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
RS199865804 NACAD Health Risk Conflicting classifications of pathogenicity —
RS199865931 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS199866423 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS199866618 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS199866657 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS199866703 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS199866795 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS199867193 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS199867309 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS199867593 DTNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Left ventricular noncompaction 1
RS199867882 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS199867946 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS199867969 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS199868020 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS199868380 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199868457 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS199868590 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS199868902 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199868951 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS199869109 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199869174 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, Inborn genetic diseases
RS199869304 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS199869975 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS199869995 FTL Health Risk Pathogenic L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE
RS199870606 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS199870788 MPDZ Health Risk Conflicting classifications of pathogenicity —
RS199871385 PDE6A Health Risk Pathogenic —
RS199871539 LRP5 Health Risk Conflicting classifications of pathogenicity 8 conditions, LRP5-related disorder
RS199871798 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Inborn genetic diseases
RS199872225 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS199872460 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, SLC5A1-related disorder
RS199872875 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS199873022 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS199873069 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS199873582 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS199873583 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS199874059 MKS1 Health Risk Pathogenic Meckel syndrome, type 1
RS199874294 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS199874519 COQ8A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Autosomal recessive ataxia due to ubiquinone deficiency
RS199874705 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS199874724 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS199874915 PPP3CA Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 91, Arthrogryposis
RS199874928 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS199875059 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis 4
RS199875082 CHRNB1 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS199875230 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS199875420 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS199875457 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS199875471 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS199875474 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Early-onset myopathy with fatal cardiomyopathy
RS199875603 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS199875722 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199875726 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199875795 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS199875878 PTH1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Eiken syndrome
RS199875915 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS199875933 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS199876065 BCAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199876141 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS199876321 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS199876576 MYH7B Health Risk Conflicting classifications of pathogenicity MYH7B-related disorder, MYH7B-related disorder
RS199877211 RDH5 Health Risk Pathogenic/Likely pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS199877380 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder
RS199877522 GNE Health Risk Likely pathogenic GNE myopathy, Sialuria
RS199877663 KRT1 Health Risk Likely pathogenic —
RS199877869 SLC12A1 Health Risk Pathogenic Bartter syndrome, Bartter disease type 1
RS199878086 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199878555 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS199878637 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS199878735 ICOSLG Health Risk Conflicting classifications of pathogenicity —
RS199879102 CDH15 Health Risk Conflicting classifications of pathogenicity —
RS199879193 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS199879389 PXDNL Health Risk Conflicting classifications of pathogenicity —
RS199879444 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS199879706 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHD8-related disorder
RS199879855 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Retinal dystrophy
RS199879861 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
RS199880090 CERS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199880101 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS199880764 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS199880827 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199881207 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS199881455 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS199881467 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS199881493 SLMAP Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS199882276 ROS1 Health Risk Conflicting classifications of pathogenicity —
RS199882367 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases
RS199882512 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS199882533 TTLL5 Health Risk Pathogenic Cone-rod dystrophy 19, Cone-rod dystrophy 19
RS199883479 SPTA1 Health Risk Likely pathogenic —
RS199883710 GJB2 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 3A, Autosomal recessive nonsyndromic hearing loss 1A
RS199883994 CYP2R1 Health Risk Pathogenic —
RS199884115 CASR Health Risk Conflicting classifications of pathogenicity Neonatal severe primary hyperparathyroidism, Autosomal dominant hypocalcemia 1
RS199884116 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS199884450 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS199884902 AFF3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199885005 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS199885226 FLG Health Risk Pathogenic —
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