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
RS138007655 RBM28 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Thyroid cancer
RS138007666 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS138007924 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS1380083184 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS138008832 PDGFRB Health Risk Conflicting classifications of pathogenicity Basal ganglia calcification, idiopathic
RS1380097145 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS138010738 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS138010842 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS138010978 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency
RS138011813 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Retinal dystrophy
RS138012019 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Inborn genetic diseases
RS1380132254 COL17A1 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 4
RS1380132788 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS138013408 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS138013482 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1380136176 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS138013956 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1380139789 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS1380141085 USH2A Health Risk Pathogenic —
RS138014548 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS138014589 ZMPSTE24 Health Risk Conflicting classifications of pathogenicity Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
RS1380147625 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS138014826 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS1380154594 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS138016359 NARS1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly
RS138017560 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS138019311 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS1380193482 SFXN4 Health Risk Pathogenic Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
RS138019537 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy
RS138019778 AVPR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nephrogenic syndrome of inappropriate antidiuresis
RS1380200946 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS1380204151 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS138020654 PCARE Health Risk Pathogenic —
RS138021217 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1380219597 MALT1 Health Risk Pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS138021998 GRM6 Health Risk Likely pathogenic —
RS1380220881 MCM9 Health Risk Pathogenic/Likely pathogenic 46, XX ovarian dysgenesis-short stature syndrome
RS1380223731 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS138022657 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS1380227293 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS138022749 SPEF2 Health Risk Conflicting classifications of pathogenicity —
RS1380231411 IL12B Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS138023728 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS138024644 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS138025172 SLC30A10 Health Risk Conflicting classifications of pathogenicity Hypermanganesemia with dystonia, polycythemia
RS138025486 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS138025751 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1380261595 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1380265721 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS138026584 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS1380267781 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS138026880 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1380270401 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS1380281188 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS138028425 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SZT2-related disorder
RS138028827 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, PIGO-related disorder
RS1380292180 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1380295297 AGTR1 Health Risk Pathogenic Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS138030555 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1JJ
RS138030591 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS138031026 FERMT3 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 3, Inborn genetic diseases
RS138031155 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS1380311814 INTS11 Health Risk Pathogenic Neurodevelopmental disorder with motor and language delay, ocular defects
RS1380315814 SLC26A4 Health Risk Likely pathogenic —
RS138032057 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS138032713 ENPP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Type 2 diabetes mellitus
RS1380341628 EFL1 Health Risk Pathogenic Shwachman-Diamond syndrome 2, Shwachman-Diamond syndrome 2
RS138034219 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, Inborn genetic diseases
RS1380343985 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS138034431 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138034434 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS138034585 DGUOK Health Risk Conflicting classifications of pathogenicity DGUOK-related disorder, DGUOK-related disorder
RS138034708 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Spondylocarpotarsal synostosis syndrome
RS138034837 FXN Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth-like disease, FXN-related disorder
RS138035588 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS138036477 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS138036524 PCNT Health Risk Pathogenic PCNT-related disorder, PCNT-related disorder
RS1380365858 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138036688 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS138036823 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 1
RS138038607 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS138039375 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS138039383 SPTB Health Risk Conflicting classifications of pathogenicity —
RS1380402024 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1380402492 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS138040512 RAD21 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 4, Inborn genetic diseases
RS1380418532 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS138041990 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease
RS138042437 CASC19 Health Risk association Familial prostate cancer, Familial prostate cancer
RS138043021 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS138043637 DHCR24 Health Risk Conflicting classifications of pathogenicity Desmosterolosis, DHCR24-related disorder
RS1380436983 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS138043979 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS1380443187 ITPA Health Risk Conflicting classifications of pathogenicity Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS138044665 RNF213 Health Risk Conflicting classifications of pathogenicity RNF213-related disorder, RNF213-related disorder
RS138044729 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1380450190 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1380453534 AAAS Health Risk Pathogenic —
RS138045391 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138045609 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
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