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
RS398123137 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS398123138 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS398123139 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, BTD-related disorder
RS398123140 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS398123143 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS398123146 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS398123147 CAPN3 Health Risk Pathogenic —
RS398123149 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS398123150 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS398123151 CBS Health Risk Likely pathogenic Classic homocystinuria, Homocystinuria
RS398123152 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS398123154 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS398123155 EMD Health Risk Pathogenic —
RS398123156 EMD Health Risk Likely pathogenic —
RS398123157 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS398123158 EMD Health Risk Pathogenic/Likely pathogenic X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1
RS398123159 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS398123160 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS398123161 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS398123162 FH Health Risk Pathogenic —
RS398123163 FH Health Risk Pathogenic Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS398123164 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS398123165 FH Health Risk Pathogenic —
RS398123166 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS398123167 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS398123168 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS398123169 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS398123170 GAA Health Risk Pathogenic —
RS398123171 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS398123172 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS398123173 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS398123174 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS398123175 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS398123176 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS398123177 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS398123179 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS398123180 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS398123181 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS398123182 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS398123184 GALT Health Risk Likely pathogenic GALT-related disorder, GALT-related disorder
RS398123185 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS398123187 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS398123188 GALT Health Risk Likely pathogenic —
RS398123190 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS398123191 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS398123192 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS398123194 GCDH Health Risk Pathogenic —
RS398123195 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS398123196 GK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS398123197 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS398123198 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123199 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS398123200 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS398123201 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS398123202 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123203 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS398123204 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS398123205 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS398123206 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123207 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123208 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123209 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS398123210 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123211 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123212 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS398123213 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS398123214 GLA Health Risk Pathogenic —
RS398123215 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, GLA-related disorder
RS398123216 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123217 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123218 GLA Health Risk Pathogenic —
RS398123219 GLA Health Risk Pathogenic Cardiovascular phenotype, Fabry disease
RS398123220 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123221 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS398123222 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS398123223 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS398123224 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS398123225 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123226 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123227 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS398123228 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS398123229 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS398123230 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS398123231 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS398123232 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS398123234 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS398123238 GUSB Health Risk Pathogenic —
RS398123240 HPRT1 Health Risk Likely pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS398123241 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS398123244 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS398123246 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS398123247 IDS Health Risk Pathogenic —
RS398123248 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS398123249 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS398123250 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS398123251 IDS Health Risk Pathogenic —
RS398123254 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis
RS398123255 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS398123256 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS398123258 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
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