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
RS1466192762 DOCK1 Health Risk Conflicting classifications of pathogenicity Temporomandibular joint disorder, Temporomandibular joint disorder
RS146619460 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1466195432 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS146619612 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS146619855 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1466204048 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS146620657 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS146620671 UBAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia 80
RS1466213230 ERCC3 Health Risk Pathogenic/Likely pathogenic —
RS1466216649 ATP13A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kufor-Rakeb syndrome
RS1466219701 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1466223609 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS146622557 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1466226819 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS146623116 SLCO1B3 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, SLCO1B3-related disorder
RS1466234699 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS146623472 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS146623998 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS146624465 GATA6 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 5, GATA6-related disorder
RS146624492 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS146624509 NF1 Health Risk Pathogenic Tibial pseudarthrosis, Neurofibromatosis
RS1466245913 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1466246912 SELENOI Health Risk Pathogenic Spastic paraplegia 81, autosomal recessive
RS146625637 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS146626318 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Inborn genetic diseases
RS146626323 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1466271703 NDUFAF5 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS146627500 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS1466275942 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS146627706 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS1466279830 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1466289570 BBS5 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS146629065 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS146629310 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS146629794 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS146630228 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS146630359 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS146630369 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, VCAN-related disorder
RS146631014 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS146631524 CMYA5 Health Risk Conflicting classifications of pathogenicity —
RS146632606 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS146632722 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome progeroid type, Inborn genetic diseases
RS1466329686 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS146633221 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1466334306 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS146634036 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS146636139 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases
RS146636599 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1466368201 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS146637048 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS146637134 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146637140 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1466371618 ATP6V0A4 Health Risk Likely pathogenic —
RS146637177 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS146639652 POLE Health Risk Likely pathogenic —
RS146640460 ATF6 Health Risk Pathogenic Achromatopsia 7, Achromatopsia 7
RS1466405295 RUNX2 Health Risk Conflicting classifications of pathogenicity —
RS146641724 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1466417547 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS146641918 PDZD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1466419887 ACOX1 Health Risk Pathogenic/Likely pathogenic Acyl-CoA oxidase deficiency, Mitchell syndrome
RS1466424348 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS146642551 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS1466427179 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1466435688 TBX1 Health Risk Likely pathogenic —
RS1466435969 CLPB Health Risk Pathogenic/Likely pathogenic —
RS1466441723 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy, Muscular dystrophy
RS146644204 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Inborn genetic diseases
RS146644725 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), PEX19-related disorder
RS1466450842 ALPK3 Health Risk Pathogenic —
RS146645381 ODAPH Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A4, ODAPH-related disorder
RS146646008 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS146646433 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS146646780 ELOVL5 Health Risk Conflicting classifications of pathogenicity —
RS146646971 RET Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS146647767 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS146648044 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1466496551 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS146649803 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS146650273 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS146650383 PRICKLE1 Health Risk Conflicting classifications of pathogenicity Epilepsy, progressive myoclonic
RS146651027 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 1, Tobacco addiction
RS146651049 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS146651237 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS146651611 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS146651743 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS146652498 COL3A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS146653620 CCDC50 Health Risk Conflicting classifications of pathogenicity —
RS146653693 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Mitochondrial complex II deficiency
RS146653767 GDI1 Health Risk Conflicting classifications of pathogenicity —
RS1466540617 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1466549456 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1466553299 YY1AP1 Health Risk Likely pathogenic —
RS146655362 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS146656175 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Inborn genetic diseases
RS1466564208 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS146657010 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, PEX16-related disorder
RS146657011 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS146659188 KCNV2 Health Risk Conflicting classifications of pathogenicity —
RS1466593517 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
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