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
RS768738452 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency 1
RS768740459 RNF213 Health Risk Conflicting classifications of pathogenicity Atypical coarctation of aorta, Moyamoya disease 2
RS768740635 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS768740986 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS768740995 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
RS768743097 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS768745213 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS768745262 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS768746412 MCM3AP Health Risk Pathogenic —
RS768746665 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS768746868 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS768747448 SCN3A Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS768748502 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS768748530 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS768748981 TRIP11 Health Risk Pathogenic —
RS768749064 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS768750176 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS768750542 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS768750924 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS768751253 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS768751352 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS768751472 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS768753432 HNF1A Health Risk Likely pathogenic Diabetes mellitus, Diabetes mellitus
RS768756825 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS768757244 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Inborn genetic diseases
RS768757373 PTPRT Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS768757901 ABHD12 Health Risk Conflicting classifications of pathogenicity —
RS768757999 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS768758217 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS768758957 CTSB Health Risk Conflicting classifications of pathogenicity Keratolytic winter erythema, Keratolytic winter erythema
RS768759268 USH2A Health Risk Conflicting classifications of pathogenicity —
RS768759374 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS768759797 TMPRSS3 Health Risk Pathogenic —
RS768760795 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS768761898 NAGA Health Risk Likely pathogenic Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
RS768763368 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768765843 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS768765919 GPR179 Health Risk Likely pathogenic Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS768766915 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS768767136 IRAK3 Health Risk Likely risk allele Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
RS768767517 GATA2 Health Risk Pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS768767735 PDP1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase phosphatase deficiency, Inborn genetic diseases
RS768767763 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS768767784 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS768768149 ARPC1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768768419 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS768768823 SDHAF1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS768769460 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS768769748 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases
RS768770438 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS768771335 CDH23 Health Risk Pathogenic —
RS768773535 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS768775024 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS768775204 NKX2-6 Health Risk Conflicting classifications of pathogenicity Conotruncal heart malformations, NKX2-6-related disorder
RS768776312 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS768776696 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS768776930 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS768777000 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS768777585 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS768779433 POLR1A Health Risk Likely pathogenic Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type
RS768779464 IFITM5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 5, Osteogenesis imperfecta type 5
RS768779673 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS768779720 MYH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768780695 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS768781835 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS768782202 RECQL4 Health Risk Likely pathogenic Rapadilino syndrome, Rapadilino syndrome
RS768782219 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, GPC3-related disorder
RS768782991 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Sarcoma
RS768783966 DBH Health Risk Pathogenic Orthostatic hypotension 1, Orthostatic hypotension 1
RS768784091 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis
RS768784624 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
RS768784845 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768785753 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS768786354 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS768788739 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS768789429 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS768791795 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS768792475 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, FKTN-related disorder
RS768792513 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS768793049 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS76879328 CFTR Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Cystic fibrosis
RS768793789 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Ovarian neoplasm
RS768793839 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS768795654 TPP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768796427 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS768796872 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768797598 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS768797866 TRIP4 Health Risk Pathogenic —
RS768799046 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Neurodevelopmental delay
RS768799195 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome
RS768801125 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS768802200 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS768802269 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS768803329 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS768803947 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS768803986 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS768807181 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS768807471 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS768808806 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS768809642 SLC26A2 Health Risk Pathogenic/Likely pathogenic Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4
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