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
RS1189695629 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1189702665 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1189720963 GAD1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89
RS1189741384 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS1189763523 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1189770602 IQCB1 Health Risk Pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS1189776349 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS1189780573 ARMC9 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS1189784704 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1189842719 SLC12A2 Health Risk Conflicting classifications of pathogenicity —
RS1189878579 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1189879446 ITPR1 Health Risk Conflicting classifications of pathogenicity —
RS1189888124 FANCC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia
RS1189889920 IQCB1 Health Risk Pathogenic Retinal dystrophy, Nephronophthisis
RS1189903735 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1189909394 KCNK4 Health Risk Pathogenic/Likely pathogenic Seizure, Generalized hypertrichosis
RS1189928623 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Achromatopsia 3
RS1189942401 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS1189945246 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS1189963978 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS1190020491 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1190025970 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS1190041303 KIZ Health Risk Likely pathogenic —
RS1190044936 WNT1 Health Risk Pathogenic —
RS1190052366 MTTP Health Risk Pathogenic/Likely pathogenic MTTP-related disorder, MTTP-related disorder
RS1190057558 ANKS6 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1190061000 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1190089227 TPO Health Risk Pathogenic —
RS11900987 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1190102918 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1190109793 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Inborn genetic diseases
RS1190110289 TRIM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
RS1190158836 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1190163112 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS1190177632 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1190231274 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1190242728 TTN Health Risk Pathogenic/Likely pathogenic Congenital titinopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1190243291 MAN1B1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1190251540 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1190253737 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1190275359 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1190307769 CDH23 Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 1
RS1190309903 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS11903223 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1190325113 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1190325114 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1190328421 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1190343247 ADGRV1 Health Risk Pathogenic —
RS1190349163 GJB2 Health Risk Pathogenic —
RS1190350825 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1190356035 GAD1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89
RS1190383931 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1190384991 ANO10 Health Risk Pathogenic —
RS1190410675 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1190414475 VPS13D Health Risk Pathogenic —
RS1190417376 ARMC9 Health Risk Likely pathogenic —
RS1190462422 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS1190463308 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1190465913 LAMA1 Health Risk Likely pathogenic —
RS1190562443 CYP7B1 Health Risk Likely pathogenic —
RS11905938 GSS Health Risk Conflicting classifications of pathogenicity Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS1190598083 COMP Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS1190611996 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1190622143 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS1190636194 COG6 Health Risk Pathogenic COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
RS1190648236 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1190655274 MACF1 Health Risk Conflicting classifications of pathogenicity —
RS1190703859 LIPT2 Health Risk Pathogenic/Likely pathogenic Encephalopathy, neonatal severe
RS1190705187 F8 Health Risk Likely pathogenic —
RS1190721481 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1190722472 POC1B Health Risk Pathogenic —
RS1190732170 SI Health Risk Pathogenic —
RS1190740301 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1190765527 RELA Health Risk Conflicting classifications of pathogenicity Mucocutaneous ulceration, chronic
RS1190771575 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1190777785 MTR Health Risk Likely pathogenic Homocystinuria, Decreased methionine synthase activity
RS1190780216 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1190799930 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1190811369 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1190872154 OTOG Health Risk Likely pathogenic —
RS1190884969 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1190921257 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS1190932109 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1190944217 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS1190944498 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1190950389 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS1190973818 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1190983296 BEST1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1190990892 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS119103212 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS119103213 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS119103214 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS119103215 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS119103216 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS119103217 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS119103218 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS119103219 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS119103220 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS119103221 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Autism spectrum disorder
RS119103222 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
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