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
RS1057516136 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1057516138 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS1057516139 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516140 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516141 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516142 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1057516144 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1057516145 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1057516149 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1057516150 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516151 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1057516153 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1057516156 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1057516157 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1057516158 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516159 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516161 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516163 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516164 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516165 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516166 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516167 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516168 FOXL2 Health Risk Pathogenic/Likely pathogenic Blepharophimosis, ptosis
RS1057516170 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516172 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516173 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516174 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516175 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516176 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516178 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516179 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516180 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516181 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516182 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516183 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516184 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516185 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS1057516187 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1057516189 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516191 CD46 Health Risk Pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS1057516192 AVP Health Risk Likely pathogenic Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus
RS1057516193 SLC38A8 Health Risk Likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS1057516194 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS1057516195 DRAM2 Health Risk Likely pathogenic Cone-rod dystrophy 21, Cone-rod dystrophy 21
RS1057516196 LMX1B Health Risk Likely pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1057516197 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1057516198 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS1057516199 CACNA1F Health Risk Likely pathogenic X-linked cone-rod dystrophy 3, X-linked cone-rod dystrophy 3
RS1057516201 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1057516202 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1057516203 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1057516204 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1057516206 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1057516207 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 3
RS1057516208 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1057516210 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS1057516211 AIFM1 Health Risk Pathogenic Severe X-linked mitochondrial encephalomyopathy, Severe X-linked mitochondrial encephalomyopathy
RS1057516212 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1057516215 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1057516216 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Fetal cystic hygroma
RS1057516217 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1057516218 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516219 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516221 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516222 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516223 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1057516224 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516225 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1057516226 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057516227 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1057516228 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1057516229 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516230 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS1057516231 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1057516232 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1057516233 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1057516235 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516236 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1057516238 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516240 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057516241 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516242 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1057516243 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1057516245 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057516246 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1057516247 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1057516248 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1057516249 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516250 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1057516251 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516252 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1057516253 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1057516254 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516255 BCS1L Health Risk Pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS1057516256 CBS Health Risk Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1057516257 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1057516258 FKTN Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1057516259 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1057516260 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1057516261 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
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