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
RS1375767063 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1375768446 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1375779674 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1375781764 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1375786834 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1375796276 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1375808651 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1375814966 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes-Brocks syndrome 1
RS1375830737 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1375836634 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1375840544 GP1BB Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS1375849231 SKIC2 Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS1375857363 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS1375859408 DNAH5 Health Risk Likely pathogenic DNAH5-related disorder, DNAH5-related disorder
RS1375859861 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1375860129 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1375868904 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS1375875748 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS1375884723 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1375890695 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, 8 conditions
RS1375894900 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1375900032 LINS1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 27
RS1375906152 BMPR2 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS1375925950 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1375943362 RPE65 Health Risk Pathogenic Abnormality of the eye, Leber congenital amaurosis 2
RS1375943534 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1375972743 FAM161A Health Risk Pathogenic —
RS1375975527 SPEF2 Health Risk Pathogenic Spermatogenic failure 43, Spermatogenic failure 43
RS1375995948 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1376011266 SBDS Health Risk Likely pathogenic Aplastic anemia, Shwachman-Diamond syndrome 1
RS1376019203 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
RS1376021262 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1376036671 ABCA4 Health Risk Pathogenic —
RS1376037318 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS1376058648 NPC2 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C2
RS1376070580 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS1376071051 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS1376116733 CCDC88A Health Risk Pathogenic —
RS1376119645 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS1376122843 OCRL Health Risk Conflicting classifications of pathogenicity Nephrolithiasis/nephrocalcinosis, Lowe syndrome
RS1376128381 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1376142506 HADHB Health Risk Pathogenic/Likely pathogenic HADHB-related disorder, Mitochondrial trifunctional protein deficiency
RS1376148269 LPL Health Risk Pathogenic —
RS1376159616 NADSYN1 Health Risk Conflicting classifications of pathogenicity Vertebral, cardiac
RS1376210516 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS1376262238 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1376263454 UNC13D Health Risk Conflicting classifications of pathogenicity See cases, Familial hemophagocytic lymphohistiocytosis 3
RS1376266690 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1376289620 MED13L Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1376293705 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1376330691 COL9A2 Health Risk Pathogenic —
RS1376331579 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1376334317 STAG1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 47
RS1376336723 SGCE Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1376342675 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1376348767 MSH3 Health Risk Likely pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS1376353591 SKIC3 Health Risk Pathogenic —
RS1376397728 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1376398586 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1376412082 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1376416883 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1376430791 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1376479747 GBA1 Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1376492472 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS1376496659 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1376500870 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1376503364 TDP1 Health Risk Likely pathogenic —
RS1376545242 ASPM Health Risk Pathogenic —
RS1376550081 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS1376567591 LOC130064475;LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS1376620210 GCK Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1376631949 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1376632879 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1376645472 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS1376664664 MKS1 Health Risk Pathogenic Meckel syndrome, type 1
RS1376668585 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1376674013 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type I
RS1376687924 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS1376691635 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1376695165 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1376707591 POLR2A Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS1376730588 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS1376737496 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS1376756373 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1376759287 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1376759965 ADAMTS13 Health Risk Pathogenic/Likely pathogenic —
RS1376771729 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1376796469 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS1376808000 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS1376812152 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS1376816910 TUBGCP4 Health Risk Pathogenic —
RS1376820756 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1376826403 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1376851289 CBS Health Risk Pathogenic/Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1376873890 CNNM4 Health Risk Pathogenic —
RS1376883697 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS1376900184 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1376907797 GABRA1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 19
RS1376921184 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS1376923782 LCP1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
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