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
RS1350358889 CLTC Health Risk Conflicting classifications of pathogenicity —
RS1350359379 IFT74 Health Risk Pathogenic IFT74-related disorder, IFT74-related disorder
RS1350367936 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1350374523 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1350375399 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS1350377647 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS1350425608 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1350431265 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1350432366 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1350433372 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1350444582 COQ8A Health Risk Pathogenic —
RS1350468182 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1350473091 ZNF469 Health Risk Pathogenic —
RS1350474919 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1350475816 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1350503435 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS1350512388 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1350543873 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1350566881 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1350570988 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1350575526 LAMC3 Health Risk Pathogenic —
RS1350583798 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS1350590893 BCKDHB Health Risk Likely pathogenic BCKDHB-related disorder, BCKDHB-related disorder
RS1350600010 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1350605713 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1350615652 MTTP Health Risk Pathogenic —
RS1350618734 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1350620976 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1350628654 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1350630820 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1350632089 SETD1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1350643283 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1350652736 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1350653181 FOXE3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Anterior segment dysgenesis
RS1350666277 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS1350685858 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS1350704340 SLC2A2 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1350712964 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1350717554 GCK Health Risk Pathogenic Hyperinsulinism due to glucokinase deficiency, Hyperinsulinism due to glucokinase deficiency
RS1350782911 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1350809730 RBM8A Health Risk Pathogenic Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
RS1350817503 SCN5A Health Risk Likely pathogenic —
RS1350817754 EXT1 Health Risk Likely pathogenic EXT1-related disorder, Exostoses
RS1350831870 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS1350835100 COL4A3 Health Risk Pathogenic/Likely pathogenic Benign familial hematuria, Autosomal dominant Alport syndrome
RS1350840483 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1350840992 CHD4 Health Risk Conflicting classifications of pathogenicity CHD4-related disorder, Inborn genetic diseases
RS1350848319 CCM2 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1350852221 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS1350873943 TRDN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1350886416 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1350886458 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1350908961 STAR Health Risk Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1350916629 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1350917774 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1350935943 TPM1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
RS1350940598 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS1350949025 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1350968647 MYH3 Health Risk Pathogenic/Likely pathogenic Contractures, pterygia
RS1351034939 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS1351036862 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1351045983 CYP21A2 Health Risk Pathogenic CYP21A2-related disorder, CYP21A2-related disorder
RS1351058559 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1351114357 RAB27A Health Risk Likely pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS1351119633 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1351138670 DNAJB11 Health Risk Pathogenic Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
RS1351144189 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS1351158680 ARMC5 Health Risk Pathogenic ARMC5-related disorder, ARMC5-related disorder
RS1351171130 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS1351189637 COL4A5 Health Risk Conflicting classifications of pathogenicity COL4A5-related disorder, X-linked Alport syndrome
RS1351190778 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, COL11A1-related disorder
RS1351209504 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1351226319 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, Cardiovascular phenotype
RS1351236437 TMPRSS3 Health Risk Pathogenic —
RS1351256745 AKT3 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Inborn genetic diseases
RS1351256820 GRIA3 Health Risk Conflicting classifications of pathogenicity —
RS1351260483 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1351261560 HK1 Health Risk Conflicting classifications of pathogenicity —
RS1351265258 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1351286949 RAG2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS1351288163 C5 Health Risk Pathogenic —
RS1351295710 CYP11B2 Health Risk Pathogenic/Likely pathogenic Corticosterone 18-monooxygenase deficiency, CYP11B2-related disorder
RS1351302431 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1351304647 MC2R Health Risk Likely pathogenic —
RS1351320025 PATL2 Health Risk Likely pathogenic Oocyte maturation defect 4, Oocyte maturation defect 4
RS1351328951 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS1351329464 TMEM260 Health Risk Pathogenic Structural heart defects and renal anomalies syndrome, Type I truncus arteriosus
RS1351334408 KAT6A Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS1351385449 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1351388457 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS1351401023 DYNC1H1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1351402169 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1351419381 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS1351453184 CNGB1 Health Risk Pathogenic —
RS1351477360 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1351477965 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1351510337 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1351549465 CTU2 Health Risk Pathogenic Microcephaly, facial dysmorphism
RS1351562877 ARSG Health Risk Likely pathogenic —
RS1351580598 NUP93 Health Risk Likely pathogenic Nephrotic syndrome, type 12
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