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
RS377600690 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS377600706 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, Inborn genetic diseases
RS377600857 P3H2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Myopia
RS377601366 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS377601838 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS377603371 GLRB Health Risk Conflicting classifications of pathogenicity Hyperekplexia 2, Inborn genetic diseases
RS377603482 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS377603706 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 3
RS377604549 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS377604853 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS377605009 RBCK1 Health Risk Conflicting classifications of pathogenicity Polyglucosan body myopathy type 1, RBCK1-related disorder
RS377605019 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS377605690 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS377606178 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS377607698 NEK1 Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly
RS377608305 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS377609235 NFATC2 Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS377609636 ASXL2 Health Risk Conflicting classifications of pathogenicity Shashi-Pena syndrome, Inborn genetic diseases
RS377609659 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS377610697 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS377610939 LONP1 Health Risk Conflicting classifications of pathogenicity —
RS377612702 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS377612718 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS377613329 HNRNPU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS377613646 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377614167 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS377614198 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Cone-rod dystrophy
RS377614503 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS377614744 CEP290 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Senior-Loken syndrome 6
RS377615662 HADH Health Risk Uncertain significance/Uncertain risk allele Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS377615868 VIPAS39 Health Risk Pathogenic —
RS377617692 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS377617900 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS377618488 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS377618570 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS377618857 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS377619533 ASXL3 Health Risk Conflicting classifications of pathogenicity Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Generalized hypotonia
RS377620009 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Craniosynostosis syndrome
RS377620137 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome 1, Hereditary glaucoma
RS377620179 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS377621293 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377623209 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377623370 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS377623604 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS377623911 C8B Health Risk Conflicting classifications of pathogenicity Type II complement component 8 deficiency, Inborn genetic diseases
RS377625960 SLC11A1 Health Risk Conflicting classifications of pathogenicity —
RS377626332 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder
RS377626365 TRAPPC6B Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, epilepsy
RS377626805 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS377627270 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377628279 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS377628453 DSTYK Health Risk Conflicting classifications of pathogenicity —
RS377628500 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS377629003 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS377629176 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS377629543 SRP72 Health Risk Conflicting classifications of pathogenicity —
RS377630352 TNC Health Risk Conflicting classifications of pathogenicity TNC-related disorder, TNC-related disorder
RS377630412 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS377630570 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS377631387 BAAT Health Risk Conflicting classifications of pathogenicity —
RS377631478 SNRNP200 Health Risk Conflicting classifications of pathogenicity —
RS377632042 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS377632137 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS377632619 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS377635623 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS377637314 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Neuronopathy
RS377638188 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Marden-Walker syndrome
RS377638408 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS377638585 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Epilepsy
RS377638805 PDHX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377638985 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS377639023 DCLRE1C Health Risk Conflicting classifications of pathogenicity —
RS377639087 TERT Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Acute myeloid leukemia
RS377639302 EPRS1 Health Risk Likely pathogenic —
RS377639405 IFT74 Health Risk Pathogenic IFT74-related disorder, IFT74-related disorder
RS377639760 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS377639990 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS377640390 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS377640847 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome
RS377641548 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, SNRNP200-related disorder
RS377642451 FKBP10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377643814 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS377644356 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS377646246 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS377647533 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS377648431 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377648506 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS377648601 SOST Health Risk Pathogenic Sclerosteosis 1, Sclerosteosis 1
RS377649723 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS377650301 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS377650415 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS377651057 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS377651753 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS377652477 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS377652722 LAMP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Danon disease
RS377652819 KCNJ16 Health Risk Likely pathogenic Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
RS377652873 TG Health Risk Likely pathogenic —
RS377653217 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS377654309 TCTN2 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS377656039 COL11A2 Health Risk Pathogenic —
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