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
RS770140533 TTN Health Risk Conflicting classifications of pathogenicity —
RS770141264 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS770141611 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770143722 DNAAF3 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770143760 KAT6B Health Risk Conflicting classifications of pathogenicity Hypospadias, Inborn genetic diseases
RS770144114 TERT Health Risk Likely pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS770144367 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS770145849 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS770145986 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS770146452 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS770147655 RNU4ATAC Health Risk Conflicting classifications of pathogenicity RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder
RS770148072 DUOXA2 Health Risk Pathogenic Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
RS770148208 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770148717 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS770149235 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS770149701 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS770150309 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS770150722 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS770150936 GIGYF1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Gigyf1-related Developmental Disorder
RS77015203 CEP97 Health Risk Conflicting classifications of pathogenicity —
RS770152618 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS770153273 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS770153434 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS770153763 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS770155054 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS770155116 DYNC2LI1 Health Risk Pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly
RS770155582 WWOX Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS770156086 NUP37 Health Risk Pathogenic Microcephaly 24, primary
RS770156398 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS770156912 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS770157475 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS770157568 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS770159048 OTOA Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS770161203 PIGB Health Risk Pathogenic Developmental and epileptic encephalopathy, 80
RS770161657 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770162224 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, COL11A1-related disorder
RS770163213 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS770163440 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS770164167 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, PNPLA1-related disorder
RS770164775 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS770166503 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS770166633 ESCO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Juberg-Hayward syndrome
RS770166812 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS770166890 SCN8A Health Risk Likely pathogenic —
RS770167198 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS770167451 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS770167670 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS770168462 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770169131 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS770170997 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS770171252 GPATCH11 Health Risk Pathogenic Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
RS770171865 PSAP Health Risk Pathogenic/Likely pathogenic Sphingolipid activator protein 1 deficiency, Metachromatic leukodystrophy
RS770172045 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Inborn genetic diseases
RS770172402 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770172733 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS770172913 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS770173163 CUL7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770174208 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS770175074 COQ9 Health Risk Pathogenic —
RS770175184 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS770175227 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS770176191 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS770176407 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS770177501 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS770180877 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS770183212 DMD Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy
RS770184277 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS770185023 IFT140 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Saldino-Mainzer syndrome
RS770186794 LCT Health Risk Pathogenic —
RS77018758 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS770187706 KCNQ2 Health Risk Pathogenic Inborn genetic diseases, Early-infantile DEE
RS770188348 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2O
RS770188918 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS770189006 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS770189298 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS770190085 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS770190473 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS770192204 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS770192412 RECQL Health Risk Conflicting classifications of pathogenicity RECQL-related disorder, RECQL-related disorder
RS770192528 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS770192760 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS770193210 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770193908 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS770193975 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS770194625 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS770195151 LORICRIN Health Risk Conflicting classifications of pathogenicity Loricrin keratoderma, Loricrin keratoderma
RS770196677 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS770196931 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS770197183 DEGS1 Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS770197760 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS770198909 TCHH Health Risk Likely pathogenic Uncombable hair syndrome 3, Uncombable hair syndrome 3
RS770199817 CYP21A2 Health Risk Pathogenic/Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS770201721 KIFBP Health Risk Likely pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS770201760 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS770201871 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, familial spinal
RS770202267 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS770202940 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS770203987 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS770204470 CYP27B1 Health Risk Likely pathogenic Vitamin D-dependent rickets, type 1A
RS770206565 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
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