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
RS1057516262 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Inborn genetic diseases
RS1057516263 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516264 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1057516265 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS1057516266 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1057516267 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS1057516268 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057516269 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS1057516270 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057516271 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1057516272 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1057516273 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1057516274 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516275 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1057516276 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516277 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516278 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1057516279 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS1057516280 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516281 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS1057516282 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516283 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516284 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516285 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516286 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1057516287 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057516288 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1057516289 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057516290 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516291 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1057516292 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1057516293 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS1057516294 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516295 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516296 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1057516297 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1057516298 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia
RS1057516299 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1057516300 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1057516301 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516302 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516304 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1057516305 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1057516306 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516307 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Familial prostate cancer
RS1057516308 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516309 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057516310 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1057516311 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1057516312 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1057516313 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1057516314 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1057516315 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS1057516316 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516317 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS1057516318 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1057516319 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Abnormality of the nervous system
RS1057516320 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057516323 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, See cases
RS1057516324 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516325 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057516326 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1057516327 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516328 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516329 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS1057516330 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1057516331 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516332 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057516333 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1057516334 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS1057516335 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS1057516336 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1057516337 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS1057516338 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS1057516339 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS1057516340 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1057516341 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1057516342 PCDH15 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
RS1057516343 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS1057516344 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1057516345 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516346 BCS1L Health Risk Likely pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS1057516347 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516348 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057516349 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS1057516350 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1057516351 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057516352 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1057516354 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS1057516355 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1057516356 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516357 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516358 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1057516360 SGCB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1057516361 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1057516362 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS1057516363 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516364 GNE Health Risk Likely pathogenic GNE myopathy, Sialuria
RS1057516365 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057516366 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
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