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
RS1456715954 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS145672251 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1456731322 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS145673747 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Connective tissue disorder
RS145673891 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS145674318 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS145674759 FOLR1 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS145674970 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS145675377 LGI1 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial temporal lobe
RS145675502 SPTB Health Risk Conflicting classifications of pathogenicity Elliptocytosis 3, Hereditary spherocytosis type 2
RS145675672 MAP3K15 Health Risk Conflicting classifications of pathogenicity —
RS145675748 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS145675911 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS145675923 OR2T8 Health Risk Conflicting classifications of pathogenicity —
RS145677314 MYH7 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS145677667 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram-like syndrome
RS145677716 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Inborn genetic diseases
RS1456778960 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS145678228 CC2D2A Health Risk Pathogenic/Likely pathogenic Abnormality of prenatal development or birth, Meckel-Gruber syndrome
RS145678415 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1456789343 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS145678978 MKI67 Health Risk Conflicting classifications of pathogenicity MKI67-related disorder, MKI67-related disorder
RS145679417 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS145679691 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS145680118 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS145680314 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS1456807949 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS145681117 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS145681459 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS145681577 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS145681607 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS145681739 DLL1 Health Risk Pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS145682249 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1456822662 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1456824645 MRPL50 Health Risk Likely pathogenic See cases, See cases
RS1456827107 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS145683325 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1456834829 PUS7 Health Risk Likely pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly
RS1456835520 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1456836841 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, Thyroid cancer
RS145684106 MGAT2 Health Risk Conflicting classifications of pathogenicity MGAT2-congenital disorder of glycosylation, MGAT2-related disorder
RS1456845940 PRUNE1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, hypotonia
RS145685060 LEPR Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, LEPR-related disorder
RS145685491 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS145686117 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS145686832 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS145687082 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS145687504 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS145688122 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, Meckel syndrome
RS145688388 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1456887132 PHF20 Health Risk Likely pathogenic Short stature, Short stature
RS1456890163 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1456894020 INTS1 Health Risk Likely pathogenic —
RS145689709 OTOG Health Risk Conflicting classifications of pathogenicity Meniere disease, OTOG-related disorder
RS145690714 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, PEX5-related disorder
RS145690756 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1456908037 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1456924846 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS145692547 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, ACE-related disorder
RS145693444 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS145693546 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Type IV short rib polydactyly syndrome
RS145693584 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS145693793 MAGEC1 Health Risk Conflicting classifications of pathogenicity —
RS145694222 SCN10A Health Risk Conflicting classifications of pathogenicity Episodic pain syndrome, familial
RS145694828 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1456950456 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS145695118 RTN4IP1 Health Risk Pathogenic Retinal dystrophy, Optic atrophy
RS145695677 SMARCB1 Health Risk Conflicting classifications of pathogenicity SMARCB1-related schwannomatosis, Rhabdoid tumor predisposition syndrome 1
RS1456964727 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1456976925 TRMU Health Risk Likely pathogenic —
RS145697858 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS145697891 MKI67 Health Risk Conflicting classifications of pathogenicity Gastric cancer, Gastric cancer
RS145698301 COL9A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome, type 4
RS1456983114 TCN2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Transcobalamin II deficiency
RS145698501 ICOS Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS145699524 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS145699896 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1457010016 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS145701604 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS145701892 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS1457024558 TIMM50 Health Risk Likely pathogenic 3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9
RS145704211 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS145704441 ALAS2 Health Risk Likely pathogenic —
RS145704693 MSRB3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 74, Papillary renal cell carcinoma type 1
RS145704867 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS1457064979 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1457072724 LIPA Health Risk Pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS1457092267 CASP8 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS1457094087 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS145709534 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS145709687 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS1457098622 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS145710079 OPA1 Health Risk Conflicting classifications of pathogenicity Childhood onset hearing loss, Childhood onset hearing loss
RS1457110544 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS145712014 SRD5A2 Health Risk Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS145712124 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS145712671 COL3A1 Health Risk Pathogenic —
RS145712777 B9D1 Health Risk Conflicting classifications of pathogenicity Ciliopathy, Ciliopathy
RS1457147107 MACF1 Health Risk Conflicting classifications of pathogenicity MACF1-related disorder, MACF1-related disorder
RS145715632 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
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