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
RS2137031313 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137031805 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2137032635 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137036897 POLR3B Health Risk association Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS2137040413 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2137042982 LRP6 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2137050478 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137054010 PHC1 Health Risk Pathogenic Microcephaly 11, primary
RS2137056192 CEP290 Health Risk Pathogenic/Likely pathogenic CEP290-related disorder, Nephronophthisis
RS2137067282 CIT Health Risk Pathogenic Microcephaly 17, primary
RS2137068260 ACBD5 Health Risk Likely pathogenic —
RS2137076976 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2137079086 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2137080156 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137081192 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS2137081530 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS2137081759 PAK1 Health Risk Pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS2137081902 PAK1 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with macrocephaly, seizures
RS2137082237 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2137082293 PAK1 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS2137082609 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS2137082728 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2137083265 ATM Health Risk Likely pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS2137085814 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137087134 ATM Health Risk Pathogenic Familial cancer of breast, Papillary renal cell carcinoma type 1
RS2137097782 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS2137101209 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137103699 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137106725 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137107185 ALG9 Health Risk Likely pathogenic Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation
RS2137111897 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137112043 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137112309 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137112755 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137113019 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137115943 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137115961 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137116089 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137116356 GNPTAB Health Risk Likely pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS2137116390 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS2137116566 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137116678 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137116846 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137117072 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137117445 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137117586 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137117656 GNPTAB Health Risk Pathogenic —
RS2137118051 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137119014 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS2137119084 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137119157 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137119177 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137119229 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137119323 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137121384 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137123723 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137123732 CTNND1 Health Risk Likely pathogenic —
RS2137123733 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137123738 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137124017 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137125146 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137126246 CTNND1 Health Risk Pathogenic Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
RS2137144428 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS2137148346 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2137150067 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137150220 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137150860 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137151163 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137152484 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137155220 TCF7L2 Health Risk Pathogenic Autism, Autism
RS2137155245 CEP290 Health Risk Pathogenic Meckel syndrome, type 4
RS2137156392 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137158804 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137165886 ABCC9 Health Risk Likely pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS2137167420 CEP290 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome
RS2137170285 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137170380 CEP290 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 10
RS2137174483 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS2137178349 TCF7L2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2137178800 TCF7L2 Health Risk Likely pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS2137179429 TCF7L2 Health Risk Pathogenic —
RS2137182061 MED13L Health Risk Likely pathogenic See cases, See cases
RS2137182509 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137183334 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2137197827 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS2137216530 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137219551 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137223723 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137238267 WBP11 Health Risk Likely pathogenic Vertebral, cardiac
RS2137241977 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137247685 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2137248487 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137251821 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137264830 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137269723 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137272605 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS2137273654 MED13L Health Risk Likely pathogenic —
RS2137274539 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137276301 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137277291 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
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