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
RS1064793118 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1064793119 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064793120 FGFR1 Health Risk Pathogenic —
RS1064793121 FGFR1 Health Risk Likely pathogenic —
RS1064793122 FGFR1 Health Risk Likely pathogenic —
RS1064793123 FGFR1 Health Risk Conflicting classifications of pathogenicity Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1064793125 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793126 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793127 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1064793128 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1064793129 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS1064793130 FOXP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases
RS1064793131 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1064793132 FZD4 Health Risk Likely pathogenic —
RS1064793133 GABRB2 Health Risk Likely pathogenic —
RS1064793134 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1064793135 GDAP1 Health Risk Likely pathogenic —
RS1064793136 GDF1 Health Risk Likely pathogenic —
RS1064793138 GDF1 Health Risk Likely pathogenic —
RS1064793139 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS1064793140 GNRHR Health Risk Likely pathogenic —
RS1064793142 GYS2 Health Risk Likely pathogenic —
RS1064793143 GYS2 Health Risk Likely pathogenic —
RS1064793146 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1064793147 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1064793151 IGF1R Health Risk Likely pathogenic —
RS1064793152 IQSEC2 Health Risk Pathogenic —
RS1064793154 IRF6 Health Risk Conflicting classifications of pathogenicity Popliteal pterygium syndrome, Orofacial cleft 6
RS1064793155 IRF6 Health Risk Likely pathogenic —
RS1064793156 JAK3 Health Risk Likely pathogenic —
RS1064793157 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1064793159 KCNE1 Health Risk Likely pathogenic Long QT syndrome 5, Long QT syndrome 5
RS1064793161 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS1064793162 L1CAM Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1064793163 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS1064793164 L1CAM Health Risk Likely pathogenic —
RS1064793165 LIAS Health Risk Conflicting classifications of pathogenicity —
RS1064793167 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS1064793168 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1064793169 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793170 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1064793172 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1064793173 MLH1 Health Risk Pathogenic —
RS1064793177 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064793178 MPV17 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS1064793179 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS1064793183 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS1064793184 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793185 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal carcinoma, Hereditary nonpolyposis colorectal carcinoma
RS1064793188 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064793190 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS1064793194 MTFMT Health Risk Conflicting classifications of pathogenicity —
RS1064793196 MTO1 Health Risk Likely pathogenic —
RS1064793197 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1064793198 MUTYH Health Risk Likely pathogenic —
RS1064793202 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1064793203 MYH3 Health Risk Likely pathogenic —
RS1064793206 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1064793208 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS1064793209 NAGS Health Risk Likely pathogenic —
RS1064793210 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1064793217 NID1 Health Risk Likely pathogenic —
RS1064793218 NSD1 Health Risk Pathogenic —
RS1064793219 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1064793220 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1064793223 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1064793224 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS1064793225 PDHA1 Health Risk Likely pathogenic —
RS1064793226 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1064793227 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1064793228 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Nonpapillary renal cell carcinoma
RS1064793230 PIGO Health Risk Likely pathogenic —
RS1064793231 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1064793232 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793234 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064793236 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793237 PRPH2 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa
RS1064793238 PRRT2 Health Risk Likely pathogenic —
RS1064793243 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1064793245 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS1064793248 RAG1 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1064793250 RAG2 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1064793251 RAG2 Health Risk Pathogenic/Likely pathogenic Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency, Recombinase activating gene 2 deficiency
RS1064793252 RERE Health Risk Pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS1064793254 RYR1 Health Risk Likely pathogenic —
RS1064793256 RYR2 Health Risk Likely pathogenic —
RS1064793257 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes syndrome
RS1064793263 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS1064793265 SEMA3A Health Risk Likely pathogenic —
RS1064793267 SH3TC2 Health Risk Likely pathogenic —
RS1064793269 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1064793271 SMAD4 Health Risk Pathogenic —
RS1064793273 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1064793275 STRA6 Health Risk Pathogenic —
RS1064793277 TACO1 Health Risk Likely pathogenic —
RS1064793278 TGFB2 Health Risk Likely pathogenic —
RS1064793279 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1064793282 TP63 Health Risk Pathogenic —
RS1064793283 TP63 Health Risk Likely pathogenic —
RS1064793284 TPM1 Health Risk Likely pathogenic —
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