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
RS777188764 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS77718928 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS777189669 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS777190579 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS777191105 PTCH1 Health Risk Likely pathogenic PTCH1-related disorder, PTCH1-related disorder
RS777192662 STRC Health Risk Pathogenic —
RS777193510 WNT2B Health Risk Pathogenic —
RS777193528 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS777193671 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases
RS777194995 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS777195213 LEFTY2 Health Risk Conflicting classifications of pathogenicity Left-right axis malformations, Left-right axis malformations
RS777195456 DIAPH1 Health Risk Conflicting classifications of pathogenicity Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS777195739 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS777196833 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, MAP2K2-related disorder
RS777197865 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS777197885 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS777198867 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS777199024 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS777200072 C2 Health Risk Conflicting classifications of pathogenicity Complement component 2 deficiency, Age related macular degeneration 14
RS777200870 DEPDC5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial focal epilepsy with variable foci
RS777201305 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS777201941 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease
RS777202372 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS777204409 GPNMB Health Risk Pathogenic Amyloidosis, primary localized cutaneous
RS777205423 COMP Health Risk Pathogenic —
RS777207639 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS777208794 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS777208936 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS777210088 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS777210376 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS777211517 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777211540 RPE65 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS777211749 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS777211919 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777213931 REST Health Risk Conflicting classifications of pathogenicity REST-related disorder, Wilms tumor 6
RS777214281 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer, RECON progeroid syndrome
RS777214459 QRICH2 Health Risk Pathogenic Spermatogenic failure 35, Spermatogenic failure 35
RS777215595 AHI1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS777216483 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Inborn genetic diseases
RS777216777 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS777217004 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS777217625 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS777218145 ADAMTS18 Health Risk Likely pathogenic ADAMTS18-related disorder, ADAMTS18-related disorder
RS777218224 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS777218310 ECHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS777219451 CHRNG Health Risk Pathogenic/Likely pathogenic Peripheral neuropathy, Autosomal recessive multiple pterygium syndrome
RS777219527 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Inborn genetic diseases
RS777219629 STAG3 Health Risk Pathogenic Premature ovarian failure 8, Premature ovarian failure 8
RS777219891 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS777220438 AP4M1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Hereditary spastic paraplegia 50
RS777220598 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS77722090 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, HPS5-related disorder
RS777222517 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS777223264 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS777223697 HESX1 Health Risk Likely pathogenic Septo-optic dysplasia sequence, Pituitary hormone deficiency
RS777224972 RFWD3 Health Risk Conflicting classifications of pathogenicity —
RS777225786 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS77722678 FGFR3 Health Risk Pathogenic/Likely pathogenic Hypochondroplasia, Hypochondroplasia
RS777227521 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS777227555 PSAP Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency
RS777227983 DNAH9 Health Risk Likely pathogenic —
RS777228780 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS777228945 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS777229118 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS777229309 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS777229764 ANKH Health Risk Conflicting classifications of pathogenicity —
RS777231178 LAMB3 Health Risk Pathogenic —
RS777231247 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS777231395 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS777232150 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS777232352 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS777233282 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS777234811 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS777234852 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS777235021 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS777235472 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS777235530 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS777235692 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS777235967 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS777240049 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS777240858 ALOXE3 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 2
RS777240987 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS777241871 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS777242754 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777242801 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS777243508 LZTR1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 2, Cardiovascular phenotype
RS777243892 RGS9 Health Risk Pathogenic —
RS777244038 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS777244673 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS777245164 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Inborn genetic diseases
RS777245398 SERPINA6 Health Risk Pathogenic Corticosteroid-binding globulin deficiency, Corticosteroid-binding globulin deficiency
RS777245977 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS777247285 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS777248132 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS777248758 AP4B1 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 47
RS777248822 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS77724903 RET Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Familial medullary thyroid carcinoma
RS777249842 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS777251123 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS777251839 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Age related macular degeneration 5
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