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
RS116647652 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome
RS1166497262 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS116649873 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS1166500471 ADGRV1 Health Risk Pathogenic —
RS1166506747 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1166509821 ACTB Health Risk Likely pathogenic Developmental malformations-deafness-dystonia syndrome, Baraitser-Winter syndrome 1
RS1166512057 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1166512859 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1166517627 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS1166545385 FANCM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fanconi anemia
RS116655315 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1C
RS1166554052 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1166557936 SMARCD2 Health Risk Pathogenic —
RS1166563034 SLC29A3 Health Risk Likely pathogenic H syndrome, H syndrome
RS116657359 SLC26A2 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 4, Achondrogenesis
RS1166587679 RXYLT1 Health Risk Pathogenic —
RS1166587869 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS116659053 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS1166599454 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1166621523 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS11666328 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS116663504 TG Health Risk Conflicting classifications of pathogenicity —
RS116666639 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS1166667492 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS1166673793 LOXHD1 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS116667976 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS1166683325 COL7A1 Health Risk Pathogenic 7 conditions, 7 conditions
RS1166699028 ADAMTSL4 Health Risk Pathogenic —
RS1166715944 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1166717771 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1166729262 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS1166737018 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS1166741724 ADGRV1 Health Risk Pathogenic/Likely pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS1166747167 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1166766963 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS116678485 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1166786919 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS1166790792 OSGEP Health Risk Likely pathogenic Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
RS1166797338 ZNF292 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Intellectual developmental disorder
RS1166802611 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1166814614 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1166843216 FLG Health Risk Pathogenic —
RS1166858046 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS116686341 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS1166863449 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1166873755 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2
RS1166889219 KCNK9 Health Risk Conflicting classifications of pathogenicity Birk-Barel syndrome, Birk-Barel syndrome
RS116690149 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Inborn genetic diseases
RS116690555 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS116690692 SKIC3 Health Risk Conflicting classifications of pathogenicity —
RS1166914763 TNNT1 Health Risk Pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS1166934042 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1166948274 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS116696494 RIPK1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 57, Autoinflammation with episodic fever and lymphadenopathy
RS1166980943 LRPPRC Health Risk Pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1166981120 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS116700257 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, NPHS1-related disorder
RS1167005638 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS116700675 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases
RS1167009272 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS1167011895 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1167040681 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1167051191 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1167058263 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1167064690 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1167073084 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1167073557 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1167089639 GLUD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1167103580 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1167104933 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1167113982 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS116711473 EOGT Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
RS1167122307 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS1167124132 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS1167129178 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS11671530 PNKP Health Risk Likely pathogenic —
RS1167153704 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS1167158496 PIGN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1167159867 ALX4 Health Risk Conflicting classifications of pathogenicity —
RS1167190644 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1167191582 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1167192442 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS1167198937 PLA2G6 Health Risk Pathogenic/Likely pathogenic PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS1167204757 NEB Health Risk Conflicting classifications of pathogenicity —
RS116721144 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1167218743 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1167223941 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS116722822 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS116723711 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1167242781 ZNF341 Health Risk Pathogenic —
RS1167251950 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1167258871 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS116726914 TG Health Risk Pathogenic TG-related disorder, TG-related disorder
RS116727742 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS116727804 MED17 Health Risk Conflicting classifications of pathogenicity Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, MED17-related disorder
RS1167280920 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS116729313 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1167313603 RPGRIP1 Health Risk Likely pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1167314179 AARS2 Health Risk Likely pathogenic —
RS1167314561 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
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