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
RS1057517246 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS1057517247 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1057517248 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1057517249 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057517250 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057517251 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Retinal dystrophy
RS1057517252 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1057517253 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Gastric cancer
RS1057517254 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1057517255 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057517256 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1057517257 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS1057517258 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057517259 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1057517260 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057517261 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1057517262 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057517263 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1057517264 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1057517265 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1057517266 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1057517267 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1057517268 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1057517269 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1057517270 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057517271 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057517272 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057517273 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS1057517275 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1057517276 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1057517277 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1057517278 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1057517279 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS1057517280 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057517281 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057517282 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1057517283 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057517284 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057517285 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057517286 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1057517287 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS1057517288 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1057517289 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1057517290 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057517291 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057517294 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057517295 VPS13B Health Risk Likely pathogenic Cohen syndrome, Abnormal brain morphology
RS1057517296 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057517297 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057517298 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS1057517299 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1057517300 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1057517301 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057517302 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057517303 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1057517304 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Infantile hypophosphatasia
RS1057517305 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057517306 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1057517307 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1057517310 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1057517311 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057517312 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057517313 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1057517314 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057517315 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS1057517316 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057517317 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057517318 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057517319 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057517320 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1057517321 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Infantile hypophosphatasia
RS1057517322 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS1057517323 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1057517324 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057517325 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057517326 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057517327 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057517328 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057517329 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1057517330 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1057517331 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057517332 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1057517333 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1057517334 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1057517335 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1057517337 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Infantile hypophosphatasia
RS1057517338 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057517339 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1057517340 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1057517341 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1057517342 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS1057517344 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057517345 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1057517346 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1057517347 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057517348 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057517349 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057517350 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS1057517351 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1057517352 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
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