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
RS2496208753 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496210221 KMT5B Health Risk Pathogenic Intellectual disability, autosomal dominant 51
RS2496211929 HEPHL1 Health Risk Likely pathogenic Pili torti-developmental delay-neurological abnormalities syndrome, Pili torti-developmental delay-neurological abnormalities syndrome
RS2496221057 CEP57 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
RS2496224973 TRPC6 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2496225413 TRPC6 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2496225710 TRPC6 Health Risk Likely pathogenic —
RS2496225722 TRPC6 Health Risk Likely pathogenic —
RS2496232377 C2CD3 Health Risk Pathogenic —
RS2496234517 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496236257 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496243325 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS2496251511 B3GAT3 Health Risk Pathogenic Larsen-like syndrome, B3GAT3 type
RS2496251561 B3GAT3 Health Risk Pathogenic Larsen-like syndrome, B3GAT3 type
RS2496256205 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS2496256443 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2496256527 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496257055 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2496258057 B3GAT3 Health Risk Pathogenic Larsen-like syndrome, B3GAT3 type
RS2496263182 CEP57 Health Risk Likely pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
RS2496264014 SPTBN2 Health Risk Likely pathogenic —
RS2496272489 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS2496277115 SPTBN2 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS2496279393 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496279887 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496280307 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496280818 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS2496281483 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496281774 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496286836 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496288024 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS2496288376 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS2496288415 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496289320 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2496289556 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2496291260 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2496291378 GANAB Health Risk Pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS2496292641 PAX6 Health Risk Likely pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2496292658 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS2496293545 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS2496294228 GANAB Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS2496294637 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS2496295153 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2496295808 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496296355 FAM111A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Osteocraniostenosis
RS2496297231 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS2496297509 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2496297949 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496299328 PAX6 Health Risk Likely pathogenic Coloboma, ocular
RS2496300697 GANAB Health Risk Pathogenic —
RS2496302668 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS2496303235 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS2496303443 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496303476 CFAP300 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS2496306498 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2496306947 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2496307620 PAX6 Health Risk Pathogenic Congenital aniridia, Congenital aniridia
RS2496309388 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2496312636 ALKBH8 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 71
RS2496316533 GANAB Health Risk Likely pathogenic —
RS2496317302 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496318039 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496320129 GANAB Health Risk Pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS2496321996 KMT5B Health Risk Likely pathogenic KMT5B-related disorder, KMT5B-related disorder
RS2496323700 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2496323932 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2496332587 GANAB Health Risk Likely pathogenic GANAB-related disorder, GANAB-related disorder
RS2496332664 GANAB Health Risk Pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS2496333718 GANAB Health Risk Likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS2496335021 CFAP300 Health Risk Pathogenic —
RS2496336087 CEP57 Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2, Inborn genetic diseases
RS2496336176 GANAB Health Risk Pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS2496345285 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS2496345542 PDE2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2496350900 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2496352247 CFAP300 Health Risk Pathogenic —
RS2496352818 NARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS2496353192 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2496353578 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2496357868 GANAB Health Risk Pathogenic —
RS2496360223 MYO7A Health Risk Pathogenic —
RS2496360541 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496360780 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS2496361252 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS2496361666 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS2496362649 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2496363164 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2496365964 NARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS2496366381 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2496371393 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496375170 GANAB Health Risk Pathogenic —
RS2496377313 DYNC2H1 Health Risk Pathogenic DYNC2H1-related disorder, DYNC2H1-related disorder
RS2496380462 KMT5B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 51
RS2496380553 KMT5B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 51
RS2496383930 LRP5 Health Risk Pathogenic —
RS2496384376 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS2496384636 LRP5 Health Risk Pathogenic —
RS2496384744 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS2496385032 LRP5 Health Risk Likely pathogenic Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4
RS2496385150 LRP5 Health Risk Pathogenic —
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