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
RS776182358 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS776184769 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS776184830 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS776185255 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS776187028 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS776187586 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS776187726 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS776187798 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS776188922 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS776189229 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS776189685 GPR179 Health Risk Conflicting classifications of pathogenicity —
RS776190273 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS776190475 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS776190494 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS776191203 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, NBEAL2-related disorder
RS776191400 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS776191510 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776192083 POLRMT Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS776193478 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS776193956 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS776194091 SPINK5 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Inborn genetic diseases
RS776194441 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS776195231 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Type 2 diabetes mellitus
RS776195746 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS776196396 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS776198410 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776199133 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS776199730 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776200278 NYX Health Risk Likely pathogenic —
RS776201118 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS776201909 PRDM16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Left ventricular noncompaction 8
RS776202248 USH2A Health Risk Conflicting classifications of pathogenicity —
RS776204399 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS776204925 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS776205964 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS776206530 COL7A1 Health Risk Pathogenic —
RS776206684 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS776207072 ALDH4A1 Health Risk Conflicting classifications of pathogenicity —
RS776209354 WT1 Health Risk Conflicting classifications of pathogenicity Meacham syndrome, Wilms tumor 1
RS776209966 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS776210036 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Bartter syndrome
RS776211500 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS776212316 BRCA2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS776212530 GIGYF1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS776213501 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS776213851 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS776214034 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS776216297 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS776216712 COL4A1 Health Risk Likely pathogenic —
RS776217028 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS776218604 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS776218605 CHRND Health Risk Pathogenic/Likely pathogenic Lethal multiple pterygium syndrome, CHRND-related disorder
RS776219612 CFH Health Risk Pathogenic —
RS776219930 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS776220123 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS776221160 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS776222338 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776222436 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS776223166 RET Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS776223452 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS776223531 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS776225389 CLDN19 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 5 with ocular involvement, Inborn genetic diseases
RS776225502 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS776226153 ABCC2 Health Risk Pathogenic —
RS776226854 RAD54L Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS776227065 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
RS776227815 EIF2B5 Health Risk Pathogenic —
RS776228270 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776228346 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS776228408 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS776228545 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS776228672 ROBO4 Health Risk Likely pathogenic Thoracic aortic aneurysm, Thoracic aortic aneurysm
RS776229611 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS776231534 SLC12A2 Health Risk Conflicting classifications of pathogenicity —
RS776231556 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS776231831 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS776232246 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS776232288 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS776232889 GPR143 Health Risk Conflicting classifications of pathogenicity Ocular albinism, type I
RS776232998 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Hypotrichosis 6
RS776233268 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS776235139 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS776235476 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS776236537 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS776237096 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776237346 DNAH3 Health Risk Likely pathogenic Spermatogenic failure 18, Spermatogenic failure 18
RS776238347 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776238441 COL18A1 Health Risk Pathogenic Knobloch syndrome 1, Knobloch syndrome 1
RS776238691 ABCA1 Health Risk Pathogenic —
RS776239808 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS776240013 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776240467 APRT Health Risk Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS776240700 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS776240891 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS776241274 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS776242478 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS776242626 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776244020 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS776245124 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS776245507 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
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