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
RS770694096 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS770694223 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS770694855 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS770694933 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS770696696 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS770697148 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS770698609 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS770698912 SPTB Health Risk Conflicting classifications of pathogenicity —
RS770699381 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS770700616 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS770701389 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS770701918 SLC2A10 Health Risk Likely pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS770702194 SLC12A3 Health Risk Likely pathogenic SLC12A3-related disorder, Familial hypokalemia-hypomagnesemia
RS770702363 ABHD14A-ACY1;ACY1 Health Risk Pathogenic/Likely pathogenic Aminoacylase 1 deficiency, ACY1-related disorder
RS770703007 MAPK8IP3 Health Risk Likely pathogenic MAPK8IP3-related disorder, Neurodevelopmental disorder with or without variable brain abnormalities
RS770703803 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS770703982 PAX2 Health Risk Conflicting classifications of pathogenicity Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS770704400 PTPRO Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 6
RS770704659 SORL1 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS770705832 AP4M1 Health Risk Pathogenic/Likely pathogenic AP4M1-related disorder, Hereditary spastic paraplegia 50
RS770706390 ASPA;SPATA22 Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS770707805 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS770708534 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS770709355 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS770709536 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS770709606 MYLK Health Risk Conflicting classifications of pathogenicity —
RS770710698 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS770711331 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS770711819 ALG12 Health Risk Pathogenic/Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS770713134 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS770713168 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS770713600 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Retinal disorder
RS770713773 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS770714794 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS770714844 VWF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770716081 SMAD9 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS770718072 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS770718484 GJA3 Health Risk Conflicting classifications of pathogenicity Cataract 14 multiple types, Inborn genetic diseases
RS770720791 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770720811 GNA11 Health Risk Conflicting classifications of pathogenicity Familial hyperparathyroidism or Hypocalciuric hypercalcaemia, Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
RS770721343 C7 Health Risk Pathogenic —
RS770721765 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS770721931 ANO5 Health Risk Conflicting classifications of pathogenicity ANO5-Related Muscle Diseases, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS770722728 HSF4 Health Risk Pathogenic Cataract 5 multiple types, HSF4-related disorder
RS770722987 TNPO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770723664 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS770723949 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS77072552 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS770726448 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS770727871 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS770729222 SDR9C7 Health Risk Conflicting classifications of pathogenicity Ichthyosis, congenital
RS770729642 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS770730338 STUB1 Health Risk Likely pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS770730662 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS770730954 TTN Health Risk Conflicting classifications of pathogenicity —
RS770731272 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, IFT140-related disorder
RS770731462 TPO Health Risk Pathogenic —
RS770733075 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS770734793 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS770735132 FREM2 Health Risk Pathogenic —
RS770735510 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS770735553 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS770736311 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia
RS770736612 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS770736746 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS770737101 SCAF4 Health Risk Likely pathogenic SCAF4-related disorder, SCAF4-related disorder
RS770737365 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS770737485 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS770738115 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS770739669 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS770740394 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS770740586 SLC30A10 Health Risk Conflicting classifications of pathogenicity Hypermanganesemia with dystonia, polycythemia
RS770741304 PLPBP Health Risk Likely pathogenic —
RS770742608 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS770742837 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS770743220 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS770743300 SALL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Duane-radial ray syndrome
RS770744511 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS770744861 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS770746460 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770746870 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS770747626 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS770748316 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS770748359 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS770748954 TMEM231 Health Risk Pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS770749420 BCS1L Health Risk Pathogenic/Likely pathogenic GRACILE syndrome, Pili torti-deafness syndrome
RS770749711 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS770750240 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS770750685 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS770751706 FERRY3 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 66
RS770751979 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS770754442 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS770754663 CPOX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770754919 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS770755811 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS770756678 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS770756964 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770757336 KRT83 Health Risk Conflicting classifications of pathogenicity Monilethrix, Monilethrix
RS770757659 SLC22A12 Health Risk Likely pathogenic Dalmatian hypouricemia, Dalmatian hypouricemia
RS770757947 NR1H4 Health Risk Likely pathogenic —
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