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
RS75254367 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS752543800 LEMD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752544046 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS752545577 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS752547166 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS752547717 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS752548366 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS752550279 PNPT1 Health Risk Pathogenic Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS752550335 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS752550849 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, See cases
RS752551225 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS752552097 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL11A2-related disorder
RS752552480 INSR Health Risk Likely pathogenic —
RS752553088 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS752553552 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS752554104 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS752554466 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS752556189 LAMB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752556549 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS752556986 MTTP Health Risk Pathogenic —
RS752558011 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS752558475 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752558942 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS752559455 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS752559648 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS752559764 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752560133 MED13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dextro-looped transposition of the great arteries
RS752560204 GSS Health Risk Pathogenic/Likely pathogenic Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria
RS752560455 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Usher syndrome type 2
RS752561542 CCR2 Health Risk Pathogenic Cystic disease of lung, Cystic disease of lung
RS752562811 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS752563214 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS752563752 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS752563839 KRT10 Health Risk Conflicting classifications of pathogenicity KRT10-related disorder, Congenital reticular ichthyosiform erythroderma
RS752564085 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS752566456 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS752569685 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS752571545 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752571732 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS752572521 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
RS752572716 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS752573039 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS752574778 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS752575140 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type 8
RS752575279 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS752575354 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS752575728 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS752575871 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS752576185 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS752577915 DZIP1L Health Risk Likely pathogenic —
RS752578370 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS752578570 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS752579437 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS752582295 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases
RS75258234 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, RAB27A-related disorder
RS752582515 TTN Health Risk Conflicting classifications of pathogenicity —
RS752582527 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS752582904 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS752583258 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS752585711 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related disorder, DICER1-related disorder
RS752586205 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752586864 EYA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J
RS752586913 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS752587443 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS752587472 ALDH6A1 Health Risk Conflicting classifications of pathogenicity Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
RS752588055 KLF11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
RS752588115 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS752588118 CACNA1B Health Risk Conflicting classifications of pathogenicity CACNA1B-related disorder, CACNA1B-related disorder
RS752589615 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS752591703 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS752592662 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS752593199 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS752593298 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS752594366 SRP72 Health Risk Conflicting classifications of pathogenicity Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia
RS752594411 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS752596216 DYNC2I1 Health Risk Pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS752596402 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS752596535 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS752597307 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS752598065 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Familial partial lipodystrophy
RS752598529 AP4M1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS752598542 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS752599095 ITGB4 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 5A
RS752599214 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752599948 PRUNE1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, hypotonia
RS752600100 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Microcephaly
RS752600682 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS752601407 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS752601543 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752602941 SLC24A5 Health Risk Pathogenic —
RS752603187 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, 8 conditions
RS752603642 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS752604668 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS752605091 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS752605468 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752606387 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS752606656 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
RS752606831 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752607057 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS752607318 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
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