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
RS778278292 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778278328 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Inborn genetic diseases
RS778278672 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS778278736 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS778279069 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS77828062 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS778281493 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS778281728 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS778282885 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS778283753 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS778283912 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS778285598 BCS1L Health Risk Likely pathogenic —
RS778286877 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS778287080 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS778287981 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiomyopathy
RS778288256 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Hereditary cancer-predisposing syndrome
RS778288375 FREM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, BNAR syndrome
RS778288464 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS778288494 FGFR2 Health Risk Conflicting classifications of pathogenicity Saethre-Chotzen syndrome, Craniosynostosis syndrome
RS778288846 ADGRV1 Health Risk Pathogenic/Likely pathogenic Febrile seizures, familial
RS778289599 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS778289775 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778289969 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77829017 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease
RS778290450 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS778291283 CACNA1E Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 69
RS778291636 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS778292046 RHOBTB2 Health Risk Conflicting classifications of pathogenicity —
RS778292216 FAM20A Health Risk Conflicting classifications of pathogenicity —
RS778294237 CTNNA2 Health Risk Pathogenic Cortical dysplasia, complex
RS778294620 WNT1 Health Risk Pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS778295133 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS778295360 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, Mitochondrial complex I deficiency
RS778296473 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS778297628 ORC1 Health Risk Pathogenic —
RS778298702 VLDLR Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS778299381 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS778303947 KLHL40 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS778305085 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS778305273 PRKN Health Risk Pathogenic/Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, Ovarian cancer
RS778305743 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS778306525 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, TYMP-related disorder
RS778306619 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS778306754 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS778306769 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS77830704 CNN2 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS778307537 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS778307564 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS778307927 NBAS Health Risk Conflicting classifications of pathogenicity —
RS778309339 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS778309862 TXNRD2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS778310543 COA8 Health Risk Conflicting classifications of pathogenicity —
RS778311141 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS778311238 PLD1 Health Risk Likely pathogenic Cardiac valvular defect, developmental
RS778311240 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS778311783 SLC4A1 Health Risk Likely pathogenic —
RS778312204 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS778313181 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS778313738 C7 Health Risk Likely pathogenic —
RS778315874 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS778316724 TG Health Risk Conflicting classifications of pathogenicity —
RS778318524 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS778319108 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS778319960 LIG1 Health Risk Pathogenic Immunodeficiency 96, Immunodeficiency 96
RS778320565 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS778320952 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS778321544 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS778322388 TGM5 Health Risk Pathogenic/Likely pathogenic Acral peeling skin syndrome, Acral peeling skin syndrome
RS778324141 IFT80 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS778324179 PARN Health Risk Likely pathogenic —
RS778325154 PIGQ Health Risk Pathogenic/Likely pathogenic Epilepsy, Developmental and epileptic encephalopathy
RS778325168 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
RS778325867 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS778326610 DEAF1 Health Risk Pathogenic/Likely pathogenic —
RS778326858 TOR1AIP1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS778328620 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS778329225 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS778329699 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS778329909 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS778330292 NEXN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS778330834 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS778331308 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS778331600 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS778331804 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS778332146 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS778332586 OPHN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778333931 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS778336022 GP6 Health Risk Pathogenic Platelet-type bleeding disorder 11, Platelet-type bleeding disorder 11
RS778336512 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Usher syndrome type 2A
RS778336949 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS778337760 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS778337904 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS778338208 NBAS Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS778338346 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related disorder, Inborn genetic diseases
RS778338717 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS778339783 GP6 Health Risk Pathogenic —
RS778339888 KIDINS220 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, intellectual disability
RS778340733 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS778340853 CDHR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778341120 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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