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
RS781255309 INF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 5
RS781255433 NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
RS781255484 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS781255993 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Inborn genetic diseases
RS781256236 PRPH2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS781256531 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS781256643 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS781257931 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS781258339 COG5 Health Risk Pathogenic/Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS781258517 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS781259791 KIF11 Health Risk Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema
RS781260708 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS781260712 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS781260818 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS781260821 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS781261060 MYPN Health Risk Pathogenic MYPN-related myopathy, Cardiovascular phenotype
RS781261918 JAM2 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS781261962 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS781262017 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Cataract 41
RS781263453 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS781263787 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1DD
RS781264043 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS781264742 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS781266802 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS781267213 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS781267265 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS781268909 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Neuronopathy
RS781269263 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS781270002 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS781270220 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS781270494 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Inborn genetic diseases
RS781270720 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS781271765 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS781272386 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Infantile hypophosphatasia
RS781272417 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS781273456 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS781274734 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS781274793 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS781275128 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS781275166 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS781275867 DGUOK Health Risk Conflicting classifications of pathogenicity —
RS781275870 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS78127667 RP1L1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS781277383 SEPSECS Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS781277456 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS781277635 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS781277953 FBXO11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS781279499 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781279819 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Long telomere syndrome
RS781280171 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS781280495 FLG Health Risk Pathogenic —
RS781281145 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS781281594 LZTFL1 Health Risk Conflicting classifications of pathogenicity LZTFL1-related disorder, Bardet-Biedl syndrome 17
RS781282667 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS781283523 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS781283997 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS781284373 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS781284605 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS781285667 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS781286980 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS781288160 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS781288814 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS781289197 POU4F3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS781291011 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS781291421 EPM2A Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Lafora disease
RS781291507 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS781291978 RFX6 Health Risk Likely pathogenic —
RS781292950 TDRD12 Health Risk Conflicting classifications of pathogenicity —
RS781295423 TRPM1 Health Risk Conflicting classifications of pathogenicity —
RS781296769 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS781297222 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS781298295 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS781299070 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS781299519 NPHS1 Health Risk Pathogenic —
RS781300183 GNPAT Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS781300766 CEP135 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781301028 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Autosomal dominant cerebellar ataxia
RS781301648 EXOSC9 Health Risk Pathogenic Pontocerebellar hypoplasia, type 1D
RS781302866 TREM2 Health Risk Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, TREM2-related disorder
RS781302974 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS781304514 TTN Health Risk Conflicting classifications of pathogenicity —
RS781304969 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS781305309 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS781306264 GBA1 Health Risk Conflicting classifications of pathogenicity —
RS781306395 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS781307223 RGS9 Health Risk Pathogenic —
RS781309325 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS781310385 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS781311846 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, POLG-related disorder
RS781312535 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS781312706 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS781313856 GLDN Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 11, Inborn genetic diseases
RS781316021 TTLL5 Health Risk Conflicting classifications of pathogenicity TTLL5-related disorder, Retinal dystrophy
RS781316719 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS781317147 DRC4 Health Risk Likely pathogenic Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS781319410 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS781319494 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS781320370 TRIM71 Health Risk Conflicting classifications of pathogenicity Non-obstructive azoospermia, Hydrocephalus
RS781320871 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS781324695 MED13L Health Risk Conflicting classifications of pathogenicity Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries
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