SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS920924223 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS920946076 DNMT3A Health Risk Likely pathogenic —
RS921017191 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS921038430 SCARF2 Health Risk Pathogenic Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
RS921050282 PNPLA2 Health Risk Likely pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS921066961 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS921077083 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Hereditary cancer-predisposing syndrome
RS921092914 VCP Health Risk Conflicting classifications of pathogenicity Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS921094576 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS921111470 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS921151054 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS921153411 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS921162119 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS921183679 FRMPD4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 104
RS921192159 MAP3K14 Health Risk Conflicting classifications of pathogenicity NIK deficiency, NIK deficiency
RS921195392 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS921199964 ADAT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS921253348 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS921266576 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS921322180 RP1 Health Risk Pathogenic —
RS921372305 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS921374592 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS921396999 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS921397256 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS921423540 HNF1A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS921429381 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS921434460 MBD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS921531106 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS921572266 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS921573478 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS921573510 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS921576454 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella syndrome
RS921581176 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS921588962 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS921593414 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS921600020 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS921624651 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis
RS921653059 POLE Health Risk Conflicting classifications of pathogenicity Polymerase proofreading-related adenomatous polyposis, Hereditary cancer-predisposing syndrome
RS921673580 NKX3-2 Health Risk Conflicting classifications of pathogenicity —
RS921678414 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS921680313 ERCC6 Health Risk Pathogenic —
RS921726348 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS921743604 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS921745963 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS921755529 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS921768118 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS921785357 B4GAT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
RS921800139 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS921808376 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with movement abnormalities, abnormal gait
RS921811959 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS921830082 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS921833941 NDUFV1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS921852102 EGFR Health Risk Conflicting classifications of pathogenicity Lung carcinoma, EGFR-related lung cancer
RS921870045 SEMA3B Health Risk Conflicting classifications of pathogenicity SEMA3B-related disorder, SEMA3B-related disorder
RS921883036 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS921889119 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS921899291 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS921903094 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS921915068 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS921917607 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS921940265 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS921941078 ALG11 Health Risk Likely pathogenic ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS921982028 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS922052006 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 1
RS922106856 CLCN7 Health Risk Pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS922149386 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, SERPING1-related disorder
RS922151130 RFX5 Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS922202185 EYA4 Health Risk Pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS922232615 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS922257453 PNP Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Purine-nucleoside phosphorylase deficiency
RS922278637 LAMA1 Health Risk Pathogenic —
RS922296506 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS922296917 COL18A1 Health Risk Pathogenic —
RS922323466 NANS Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS922408768 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS922414644 PIEZO1 Health Risk Likely pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS922421314 FREM2 Health Risk Pathogenic —
RS922432809 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lymphatic malformation 6
RS922511747 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS922514173 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS922533851 PAX2 Health Risk Pathogenic PAX2-related disorder, Renal coloboma syndrome
RS922548333 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 12
RS922597695 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS922631519 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS922640025 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Qualitative or quantitative defects of merosin
RS922684362 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS922684515 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS922686745 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS922700209 CDH23 Health Risk Conflicting classifications of pathogenicity Pituitary adenoma 5, multiple types
RS922703465 MPDZ Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS922706582 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS922736614 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS922751471 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS922757507 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS922789487 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS922800309 GPAA1 Health Risk Conflicting classifications of pathogenicity Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
RS922800521 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS922801085 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS922818626 ABCA4 Health Risk Likely pathogenic —
RS922821119 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
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