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
RS764847439 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS764847747 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS764847812 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS764847886 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS764848326 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS764848745 MTO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS764849762 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS764849833 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEFH-related disorder
RS764853962 COQ8B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764854821 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS764855628 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS764857208 ABCG8 Health Risk Likely pathogenic —
RS764858363 LIAS Health Risk Pathogenic/Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS764858484 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS764858516 CUL7 Health Risk Pathogenic —
RS764859619 CR2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS764861728 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Nephronophthisis
RS764861755 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS764862220 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS764862901 SRRM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764862951 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS764863191 ADAMTS18 Health Risk Pathogenic —
RS764863211 CPAP Health Risk Pathogenic —
RS764863416 FUCA1 Health Risk Pathogenic Intellectual disability, Fucosidosis
RS764863689 ATP8B1 Health Risk Conflicting classifications of pathogenicity ATP8B1-related disorder, ATP8B1-related disorder
RS764863988 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS764864372 STRC Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS764865083 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS764865735 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, Inborn genetic diseases
RS764865819 IGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764866250 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS764867254 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS764867438 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS764867524 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS764867655 TNXB Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS764867856 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS764868582 ERCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leukodystrophy
RS76486938 CDK5 Health Risk Conflicting classifications of pathogenicity —
RS764870230 MAK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS764870249 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS764871141 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS764871530 C7 Health Risk Pathogenic Complement component 7 deficiency, Complement component 7 deficiency
RS764871960 MSTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn genetic diseases
RS764872559 COL4A4 Health Risk Likely pathogenic —
RS764873243 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS764873258 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS764874938 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS764875815 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS764876916 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS764877172 GPR179 Health Risk Pathogenic/Likely pathogenic GPR179-related disorder, GPR179-related disorder
RS764877312 PARK7 Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
RS764877352 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS764877688 LDHD Health Risk Likely pathogenic Abnormal circulating lactate dehydrogenase concentration, Lactic aciduria due to D-lactic acid
RS764877771 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS764878127 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764878153 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS764878166 COL2A1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, COL2A1-related disorder
RS764878423 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS764878471 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS764878921 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS764880157 SPG11 Health Risk Pathogenic —
RS764880309 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS764880845 TEK Health Risk Conflicting classifications of pathogenicity Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases
RS764881077 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS764882468 KIF14 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS764882950 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS764883927 TANGO2 Health Risk Pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Metabolic crises with rhabdomyolysis
RS764884250 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS764884402 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS764884516 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS764884530 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS764884641 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS764886183 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS764888239 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS764888601 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764889032 SLC22A12 Health Risk Likely pathogenic —
RS764891422 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS764891575 DMD Health Risk Conflicting classifications of pathogenicity —
RS764892258 CELF2 Health Risk Pathogenic —
RS764893412 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS764893806 ABCB6 Health Risk Likely pathogenic Familial pseudohyperkalemia, Langereis blood group
RS764895082 VARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS764895427 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS764896402 RAD51B Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS764896693 SZT2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 18
RS764897448 GTPBP2 Health Risk Pathogenic Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
RS764897557 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5
RS764897668 PCDH12 Health Risk Pathogenic/Likely pathogenic Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS764898262 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764899074 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS764899882 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS764900781 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS764901671 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS764903148 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS764904424 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS764905638 SCLT1 Health Risk Pathogenic —
RS764906529 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Senior-Loken syndrome 9
RS764907398 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS764908376 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764908423 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Hypophosphatasia
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