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
RS1432402314 POLE Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Hereditary cancer-predisposing syndrome
RS1432404353 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS143240527 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS143240655 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS143240767 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS1432415523 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1432416419 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS143241967 C1QTNF5 Health Risk Conflicting classifications of pathogenicity —
RS143242369 SHOC2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1432429004 MAGEL2 Health Risk Likely pathogenic —
RS143243661 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1432436629 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1432438341 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS1432439769 DNAH9 Health Risk Pathogenic DNAH9-related disorder, DNAH9-related disorder
RS1432441761 COL7A1 Health Risk Likely pathogenic —
RS143244650 TMPRSS6 Health Risk Conflicting classifications of pathogenicity TMPRSS6-related disorder, TMPRSS6-related disorder
RS143244920 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, Inborn genetic diseases
RS1432451428 KDM4B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS143245957 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS143246542 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS143246552 TEX11 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure, X-linked
RS1432465908 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS143246852 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS143247306 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS143248111 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder
RS143248687 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS143249148 NEK2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS143249653 TOPORS Health Risk Conflicting classifications of pathogenicity —
RS1432496942 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS143250090 KIF7 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia, Al-Gazali type
RS1432504119 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS143250551 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
RS143251480 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS143251588 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1432520854 C6 Health Risk Likely pathogenic Complement component 6 deficiency, Complement component 6 deficiency
RS143252541 OPA1 Health Risk Conflicting classifications of pathogenicity Abortive cerebellar ataxia, Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
RS143252724 CHRNA1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS143252734 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1432532960 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1432539290 LIMS2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W
RS143254493 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS143255118 EDN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143256214 C8A Health Risk Conflicting classifications of pathogenicity —
RS143256976 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS143257313 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS1432573544 TOP3A Health Risk Pathogenic —
RS143258043 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS143258862 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Microcephaly 6
RS1432594571 HTRA1 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1432594936 POMK Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS143259810 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS1432600424 CNNM4 Health Risk Pathogenic Jalili syndrome, Jalili syndrome
RS1432604396 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS143260457 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS1432605158 TSEN54 Health Risk Pathogenic —
RS143260706 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Inborn genetic diseases
RS143260721 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS1432619357 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1432628513 OCA2 Health Risk Conflicting classifications of pathogenicity —
RS1432632972 CAPN3 Health Risk Likely pathogenic Abnormality of the musculature, Limb-girdle muscular dystrophy
RS143263315 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, ABCA4-related disorder
RS1432643009 ADGRV1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1432645175 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS143264567 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS143265437 HPS5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143265750 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1432669401 ACAD9 Health Risk Likely pathogenic —
RS143268076 KANK2 Health Risk Conflicting classifications of pathogenicity —
RS143268382 FAM20A;PRKAR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1432688490 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS143269044 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS143269114 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS143269206 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS143270460 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1432706111 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1432707846 MMP21 Health Risk Pathogenic Heterotaxy, visceral
RS143271333 MYH4 Health Risk Conflicting classifications of pathogenicity —
RS1432720620 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143272304 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Inborn genetic diseases
RS143272701 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS143272752 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1432748871 SHARPIN Health Risk Pathogenic Autoinflammation with episodic fever and immune dysregulation, Autoinflammation with episodic fever and immune dysregulation
RS143274889 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS143275144 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS143275316 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS143275858 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1432758988 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS143276279 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 13, Diabetes mellitus
RS1432765424 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS143276868 PRRG3 Health Risk Conflicting classifications of pathogenicity —
RS143277114 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143277125 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1432780165 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS143278243 HFE Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 1, Hemochromatosis type 1
RS143278893 RHOBTB2 Health Risk Conflicting classifications of pathogenicity —
RS1432792609 ASCC3 Health Risk Likely pathogenic See cases, Intellectual developmental disorder
RS143279888 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS1432802140 AP4M1 Health Risk Pathogenic/Likely pathogenic —
RS1432807966 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1432810664 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Cardiomyopathy
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