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
RS1226982948 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1226994577 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1226997153 PRKN Health Risk Conflicting classifications of pathogenicity Young-onset Parkinson disease, Young-onset Parkinson disease
RS1227013948 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1227027709 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1227030484 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1227030642 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS1227032564 COG1 Health Risk Pathogenic/Likely pathogenic COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS1227035820 MRPL39 Health Risk Likely pathogenic Mitochondrial disease, Combined oxidative phosphorylation deficiency 59
RS1227039585 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1227040638 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS1227043449 MAST3 Health Risk Pathogenic Developmental and epileptic encephalopathy 108, Developmental and epileptic encephalopathy 108
RS1227064699 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1227066484 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1227070716 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1227081826 UBAP1 Health Risk Likely pathogenic Spastic paraplegia 80, autosomal dominant
RS1227088794 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1227093654 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS1227094533 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS1227095960 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1227114881 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1227124053 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1227131990 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1227147156 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS1227147475 F2 Health Risk Likely pathogenic Coagulation factor deficiency syndrome, Congenital prothrombin deficiency
RS1227149616 ITPA Health Risk Pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS1227163239 ANO10 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1227169455 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1227175290 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1227192105 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1227198230 SLC40A1 Health Risk Pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1227198324 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1227198694 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1227203387 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1227208547 GZF1 Health Risk Pathogenic/Likely pathogenic Joint laxity, short stature
RS1227216618 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1227241969 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1227245973 NTNG2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with behavioral abnormalities
RS1227251669 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1227254537 CLN6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ceroid lipofuscinosis
RS1227276668 RP2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 2, Retinal dystrophy
RS1227276816 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1227284058 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1227297747 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1227301119 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1227311322 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1227312736 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1227323118 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1227331406 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1227333624 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS1227348505 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1227349336 VWF Health Risk Pathogenic Inborn genetic diseases, von Willebrand disorder
RS1227353804 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1227395094 BLOC1S6 Health Risk Pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS1227406471 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS1227407669 FKBP10 Health Risk Pathogenic —
RS1227427396 PKLR Health Risk Pathogenic/Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS1227431766 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS1227463735 SCLT1 Health Risk Pathogenic —
RS1227480400 KIF11 Health Risk Pathogenic/Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1227493628 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1227524799 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1227524890 TRIO Health Risk Likely pathogenic TRIO-related disorder, TRIO-related disorder
RS1227526379 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1227560475 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1227564457 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1227564823 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS1227571557 PAX2 Health Risk Conflicting classifications of pathogenicity Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS1227591846 GRM1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1227599828 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1227604776 HAAO Health Risk Likely pathogenic Vertebral, cardiac
RS1227615312 WFS1 Health Risk Pathogenic —
RS1227624153 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1227626398 IDH2 Health Risk Conflicting classifications of pathogenicity —
RS1227630175 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS1227643933 TET3 Health Risk Pathogenic/Likely pathogenic Beck-Fahrner syndrome, TET3 deficiency
RS1227651240 COX20 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 11
RS1227662860 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1227701474 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1227702983 ADAMTS17 Health Risk Likely pathogenic —
RS1227708628 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS1227714952 HSPG2 Health Risk Pathogenic/Likely pathogenic —
RS1227738008 SZT2 Health Risk Likely pathogenic —
RS1227759001 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS1227761587 CNGA3 Health Risk Pathogenic Retinal dystrophy, Achromatopsia 2
RS1227775795 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Inborn genetic diseases
RS1227779911 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1227800781 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1227804681 MEF2C Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1227806763 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS1227826852 SMARCA4 Health Risk Conflicting classifications of pathogenicity SMARCA4-related disorder, Neoplasm
RS1227833863 INTU Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1227840515 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1227856624 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1227866298 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1227869359 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1227874093 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1227875610 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1227887757 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1227905250 AICDA Health Risk Pathogenic/Likely pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
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