SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS867025413 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS867032077 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS867038717 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy
RS867039578 DOCK6 Health Risk Pathogenic —
RS867045420 DDOST Health Risk Pathogenic/Likely pathogenic Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
RS867053742 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS867058901 FBN1 Health Risk Conflicting classifications of pathogenicity Acromicric dysplasia, Weill-Marchesani syndrome
RS867061766 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS867062949 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS867067755 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS867069017 TERT Health Risk Likely pathogenic —
RS867069460 LOXHD1 Health Risk Likely pathogenic —
RS867072234 ANK2 Health Risk Pathogenic —
RS867073059 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS867074778 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS867075139 TBCD Health Risk Pathogenic —
RS867076374 BRWD3 Health Risk Likely pathogenic —
RS867089743 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS867092741 PKD1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS867094910 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS867104086 SMCHD1 Health Risk Likely pathogenic Scapulohumeral muscular dystrophy, Scapulohumeral muscular dystrophy
RS867108845 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS867112705 VPS13B Health Risk Pathogenic Cohen syndrome, Ovarian serous cystadenocarcinoma
RS867113214 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Hereditary cancer-predisposing syndrome
RS867114783 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS867116896 SCN2A Health Risk Pathogenic —
RS867122896 CCDC88C Health Risk Likely pathogenic —
RS867145238 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS867146882 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS867153082 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia 10, Primary ciliary dyskinesia 10
RS867154687 PCDH15 Health Risk Pathogenic —
RS867155796 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS867160952 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS867163041 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS867166472 CDHR1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS867170002 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS867177356 DNAH9 Health Risk Pathogenic Ciliary dyskinesia, primary
RS867179008 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS867192725 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Polydactyly
RS867194464 CAV3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS867195616 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS867197652 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS867201474 MYH2 Health Risk Conflicting classifications of pathogenicity MYH2-related disorder, Myopathy
RS867202471 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS867205119 TTC21B Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS867210538 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS867226993 GALC Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS867229260 CFH Health Risk Likely pathogenic —
RS867230401 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS867232627 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS867245161 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder
RS867246620 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS867249938 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS867255315 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS867262025 PIK3CA Health Risk Pathogenic Inborn genetic diseases, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
RS867262419 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS867265684 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS867267949 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS867271343 IMPG2 Health Risk Pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS867272973 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS867288458 PRPS1 Health Risk Likely pathogenic Retinal dystrophy, Hearing loss
RS867293260 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS867305222 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS867312165 FRAS1 Health Risk Pathogenic —
RS867315913 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS867319477 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS867319899 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS867323565 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS867332885 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS867333942 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS867336520 B3GALT6 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome
RS867341758 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS867342730 KIAA0586 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS867346158 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS867360056 POLE Health Risk Likely pathogenic Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
RS867360704 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Trigonocephaly 1
RS867368757 OPTN Health Risk Likely pathogenic Primary open angle glaucoma, Glaucoma 1
RS867369805 MYO15A Health Risk Pathogenic —
RS867374780 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Primary dilated cardiomyopathy
RS867378400 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS867379493 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS867382922 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS867384286 FBXW7 Health Risk Pathogenic Neoplasm, Colorectal cancer
RS867389476 DDHD2 Health Risk Pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS867389695 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS867390302 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS867391752 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS867398712 COL7A1 Health Risk Pathogenic —
RS867401129 TTLL5 Health Risk Likely pathogenic Colon adenocarcinoma, Colon adenocarcinoma
RS867404262 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS867408303 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS867410198 EYS Health Risk Pathogenic —
RS867410737 ATP5F1D Health Risk Pathogenic Decreased activity of mitochondrial ATP synthase complex, Mitochondrial complex V (ATP synthase) deficiency
RS867410805 COQ2 Health Risk Pathogenic/Likely pathogenic Neonatal encephalopathy, Neonatal encephalopathy
RS867412512 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS867418897 APOB Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS867420193 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS867420711 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS867422125 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS867425110 C6 Health Risk Pathogenic/Likely pathogenic Complement component 6 deficiency, C6-related disorder
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