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
RS376338674 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS376338784 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS376338995 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS376342597 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS376342763 LFNG Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 3, autosomal recessive
RS376343938 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS376344008 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376344484 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376344586 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS376345436 MSH3 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS376346077 SLC2A10 Health Risk Likely pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS376346375 RECQL Health Risk Conflicting classifications of pathogenicity RECON progeroid syndrome, RECON progeroid syndrome
RS376346567 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS376347405 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS376348438 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS376349935 SPTBN2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS376350416 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376351191 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS376351293 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS376351360 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS376351419 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Inborn genetic diseases
RS376352502 SNRNP200 Health Risk Conflicting classifications of pathogenicity —
RS376352599 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS376352654 DNAJC6 Health Risk Conflicting classifications of pathogenicity Juvenile onset Parkinson disease 19A, Juvenile onset Parkinson disease 19A
RS376352893 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376352901 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS376353407 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Inborn genetic diseases
RS376353501 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS376353940 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376354424 TTC21B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Asphyxiating thoracic dystrophy 4
RS376355040 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS376355660 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS376355678 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS376356150 SIM1 Health Risk Conflicting classifications of pathogenicity SIM1-related disorder, Inborn genetic diseases
RS376357016 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS376358025 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS376358532 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS376359740 COL6A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS376360090 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS376360223 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS376362072 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia 1
RS376363284 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376363769 KCNC1 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Inborn genetic diseases
RS376364416 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Ovarian cancer
RS376364468 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS376365094 CPLANE1 Health Risk Conflicting classifications of pathogenicity —
RS376365775 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS376366035 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS376366324 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS376366555 EYA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J
RS376367125 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS376367358 TRAPPC9 Health Risk Conflicting classifications of pathogenicity —
RS376368459 USP53 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS376368468 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS376368630 LTBP4 Health Risk Conflicting classifications of pathogenicity LTBP4-related disorder, LTBP4-related disorder
RS376370021 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay
RS376370460 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS376371272 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376371660 SETBP1 Health Risk Pathogenic/Likely pathogenic Schinzel-Giedion syndrome, Schinzel-Giedion syndrome
RS376371866 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS376372388 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376372763 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis 1
RS376372877 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS376372961 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS376373313 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS376374602 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS376374984 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS376376418 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS376376974 SACS Health Risk Likely pathogenic —
RS376377077 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS376378709 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS376379631 NUP93 Health Risk Conflicting classifications of pathogenicity —
RS376380339 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS376380567 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS376381196 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS376381280 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS376381668 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS376382707 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376382794 OTOA Health Risk Pathogenic/Likely pathogenic OTOA-related disorder, OTOA-related disorder
RS376384665 F7 Health Risk Likely pathogenic Congenital factor VII deficiency, Congenital factor VII deficiency
RS376387058 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS376387472 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS376387633 SOX6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376388820 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Inborn genetic diseases
RS376389151 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS376389208 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS376389213 RYR2 Health Risk Conflicting classifications of pathogenicity Heart disease, Cardiovascular phenotype
RS376389928 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS376391115 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS376391674 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12
RS376392965 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS376393123 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS376395495 MARK3 Health Risk Pathogenic Visual impairment and progressive phthisis bulbi, Visual impairment and progressive phthisis bulbi
RS376395729 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS376396183 TTN Health Risk Conflicting classifications of pathogenicity —
RS376396278 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS376397597 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS376397821 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS376398239 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS376398719 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, ABCC2-related disorder
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