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
RS146504019 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS146504061 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS146504115 POLG2 Health Risk Conflicting classifications of pathogenicity POLG2-related disorder, POLG2-related disorder
RS1465041573 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1465045317 RPL3L Health Risk Pathogenic Cardiomyopathy, dilated
RS146505280 BLK Health Risk Conflicting classifications of pathogenicity Systemic lupus erythematosus, Maturity-onset diabetes of the young type 11
RS146505418 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS146505513 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146505940 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH8-related disorder
RS146505967 NLRP1 Health Risk Conflicting classifications of pathogenicity —
RS1465059691 TG Health Risk Likely pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS146507999 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1465088683 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS146509108 SACS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS1465092391 TIMELESS Health Risk Pathogenic Advance sleep phase syndrome, familial
RS146509445 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS1465096387 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1465099653 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS146510581 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS1465111896 SLC4A11 Health Risk Pathogenic —
RS146511220 ACADL Health Risk Conflicting classifications of pathogenicity Long chain acyl-CoA dehydrogenase deficiency, Long chain acyl-CoA dehydrogenase deficiency
RS146512155 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS146513154 PKD1L1 Health Risk Conflicting classifications of pathogenicity PKD1L1-related disorder, Inborn genetic diseases
RS146513209 POLR3B Health Risk Conflicting classifications of pathogenicity POLR-related leukodystrophy, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS146513976 SPTB Health Risk Conflicting classifications of pathogenicity —
RS146514343 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS146514663 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS1465152683 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS146515561 SCN1A Health Risk Pathogenic Early-infantile DEE, Generalized epilepsy with febrile seizures plus
RS146515571 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146515622 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS146515654 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Inborn genetic diseases
RS146517173 NRXN2 Health Risk Conflicting classifications of pathogenicity —
RS146517700 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Childhood hypophosphatasia
RS146518838 DDX59 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146519482 HFE Health Risk Pathogenic Hemochromatosis type 1, Hereditary hemochromatosis
RS146519878 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS146520285 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS1465203402 COL4A2 Health Risk Likely pathogenic —
RS146520965 ATP5PO Health Risk Pathogenic Severe global developmental delay, Dysphagia
RS146521598 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1465217212 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS146521846 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS146522169 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS146522699 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1465232657 CHM Health Risk Pathogenic —
RS146523293 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1465243895 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS146525143 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS1465252834 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS146525445 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS146525742 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1465263505 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1465267708 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS146526977 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS146527005 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Vitreoretinopathy
RS146527239 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS146527465 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1465275638 HPS3 Health Risk Pathogenic —
RS1465284719 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS146529284 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS146529487 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS146529524 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of Herlitz
RS1465307943 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS1465309384 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1465311328 MYO15A Health Risk Pathogenic/Likely pathogenic —
RS146531225 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS146531432 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS146531614 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS146532064 TWNK Health Risk Conflicting classifications of pathogenicity —
RS1465320800 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS146532299 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS1465332264 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1465332482 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS146533802 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS146534723 FRMPD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FRMPD4-related disorder
RS1465352266 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS1465353841 RET Health Risk Pathogenic RET-related disorder, RET-related disorder
RS146535799 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS146535920 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS146536985 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS1465370806 NKX2-1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146537096 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1465372282 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS146537931 S1PR2 Health Risk Conflicting classifications of pathogenicity —
RS146538280 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS146538551 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS146538906 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS146538967 ERCC2 Health Risk Pathogenic —
RS146539065 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Pontoneocerebellar hypoplasia
RS146539535 FDXR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FDXR-related disorder
RS146539849 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1465404366 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1465411279 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1465414886 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 5, Joubert syndrome
RS146543659 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1465437164 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS1465439141 TSFM Health Risk Likely pathogenic —
RS1465443065 GREB1L Health Risk association Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
RS146544539 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, PROKR2-related disorder
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