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
RS757610542 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS757611751 KERA Health Risk Pathogenic Cornea plana 2, Cornea plana 2
RS757613660 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS757613811 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS757613817 NSMCE2 Health Risk Pathogenic Seckel syndrome 10, Seckel syndrome 10
RS757614405 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS757615089 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS757615099 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS757615298 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, Inborn genetic diseases
RS757615745 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS75761674 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS757617349 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS757617999 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS757621175 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757621444 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS757622521 PDE6C Health Risk Pathogenic Achromatopsia, Cone dystrophy 4
RS757622849 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS757625535 USH1C Health Risk Pathogenic —
RS757625928 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS757626317 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS757627281 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS757628476 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS75762896 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS757629380 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS757629526 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS757630877 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS757630901 VPS13C Health Risk Pathogenic —
RS757631449 STIL Health Risk Likely pathogenic Neutrophil inclusion bodies, Neutrophil inclusion bodies
RS757631575 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS757632129 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS757632931 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS757632961 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS75763304 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS757633174 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS75763344 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS757634052 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS757635140 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS757635528 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS757636155 TRAPPC12 Health Risk Likely pathogenic Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
RS757636363 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS757636489 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly and chorioretinopathy 1
RS757636745 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Retinitis pigmentosa
RS757641323 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS757642790 OTOF Health Risk Pathogenic —
RS757643586 ABHD12 Health Risk Pathogenic —
RS757643633 NANOS1 Health Risk Conflicting classifications of pathogenicity —
RS757644888 KCNJ1 Health Risk Likely pathogenic —
RS757645341 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS757647065 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BRCA2-related cancer predisposition
RS757647232 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS757648006 FGFR2 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome
RS757648761 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS757649304 CUL4B Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability Cabezas type, Inborn genetic diseases
RS757649673 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS757649757 MARS2 Health Risk Likely pathogenic —
RS757650055 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Retinal dystrophy
RS757650373 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS757650990 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS757651507 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757651881 FUS Health Risk Conflicting classifications of pathogenicity Tremor, hereditary essential
RS757652435 DNHD1 Health Risk Pathogenic —
RS757652918 SAMD9 Health Risk Conflicting classifications of pathogenicity —
RS757653002 PLCH1 Health Risk Pathogenic Holoprosencephaly 14, Holoprosencephaly 14
RS757653154 FBP1 Health Risk Pathogenic/Likely pathogenic Fructose-biphosphatase deficiency, Inborn genetic diseases
RS757653472 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS757653982 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS757655010 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS757655633 PARN Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS757657013 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS757657323 AP4E1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Stuttering
RS757658720 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS757658916 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS757660866 MYO3A Health Risk Pathogenic/Likely pathogenic —
RS757661749 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS757662453 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group P, Fanconi anemia
RS757663357 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS757663389 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS757664433 TGFB3 Health Risk Conflicting classifications of pathogenicity Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS757665544 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS757665750 NPHS2 Health Risk Pathogenic —
RS757666530 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, LONP1-related disorder
RS757668134 FOXF1 Health Risk Conflicting classifications of pathogenicity —
RS757668486 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS757668497 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS757669327 ZMYM2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract
RS757670984 ABHD12 Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS757671025 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS757672024 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS757673014 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS757674137 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS757674160 NUP93 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 12
RS757674263 NALCN Health Risk Pathogenic Inborn genetic diseases, Congenital contractures of the limbs and face
RS757674289 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 1
RS757675676 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5
RS757676098 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS757676104 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS757676723 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS757676858 RERE Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without anomalies of the brain, eye
RS757677006 LMOD2 Health Risk Pathogenic Cardiomyopathy, dilated
RS757677789 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
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