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
RS2136725569 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2136728245 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136728385 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2136728464 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2136748724 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2136751258 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2136753495 RPS26 Health Risk Likely pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
RS2136753773 RPS26 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 10, Diamond-Blackfan anemia
RS2136753785 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia
RS2136753850 RPS26 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia
RS2136763097 FGD4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2136767620 MYL2 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS2136770901 MYL2 Health Risk Pathogenic/Likely pathogenic —
RS2136774043 MYL2 Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS2136811371 AAAS Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS2136811976 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS2136814350 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2136815265 ERBB3 Health Risk Pathogenic Visceral neuropathy, familial
RS2136817458 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS2136818517 ERBB3 Health Risk Likely pathogenic Visceral neuropathy, familial
RS2136820957 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS2136822199 ERBB3 Health Risk Likely pathogenic Visceral neuropathy, familial
RS2136822757 ERBB3 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2136823066 TNFRSF1A Health Risk Likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS2136827755 ALG9 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2136828141 LRP6 Health Risk Likely pathogenic —
RS2136838531 TCF7L2 Health Risk Pathogenic —
RS2136852410 ORAI1 Health Risk Pathogenic Myopathy, tubular aggregate
RS2136853046 ORAI1 Health Risk Likely pathogenic Combined immunodeficiency due to ORAI1 deficiency, Myopathy
RS2136865918 SCNN1A Health Risk Pathogenic Pseudohypoaldosteronism, type IB1
RS2136875298 LRP6 Health Risk Pathogenic —
RS2136876881 ALG8 Health Risk Pathogenic ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS2136877292 GYS2 Health Risk Pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS2136885834 LRP6 Health Risk Pathogenic Tooth agenesis, selective
RS2136887072 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS2136894487 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2136899636 ALG8 Health Risk Pathogenic/Likely pathogenic ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS2136903056 ALG8 Health Risk Likely pathogenic Polycystic liver disease 3 with or without kidney cysts, Polycystic liver disease 3 with or without kidney cysts
RS2136906563 GYS2 Health Risk Likely pathogenic —
RS2136910908 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2136911405 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2136911634 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2136913413 GYS2 Health Risk Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS2136914556 LRP6 Health Risk Pathogenic —
RS2136915887 ALG8 Health Risk Pathogenic ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS2136919555 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Compton-North congenital myopathy
RS2136919683 LRP6 Health Risk Pathogenic Tooth agenesis, selective
RS2136929776 TCF7L2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2136932206 FGD4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H
RS2136936118 ALG9 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2136937347 POLR3B Health Risk Likely pathogenic Charcot-Marie-Tooth disease, demyelinating
RS2136937857 AMHR2 Health Risk Pathogenic —
RS2136938115 AMHR2 Health Risk Likely pathogenic Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS2136938446 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136939497 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136940605 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2136943263 AMHR2 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2136943353 KCNC2 Health Risk Pathogenic Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
RS2136943442 ATM Health Risk Pathogenic Malignant tumor of urinary bladder, Hereditary cancer-predisposing syndrome
RS2136943757 KCNC2 Health Risk Pathogenic Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
RS2136944093 KCNC2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2136944431 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2136944684 KCNC2 Health Risk Pathogenic Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
RS2136946265 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2136946469 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136948126 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136948975 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136949935 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136950036 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2136950565 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2136952289 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2136952659 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS2136953216 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136953867 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2136954627 PPP1R12A Health Risk Likely pathogenic —
RS2136958216 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2136959456 DNAH10 Health Risk Pathogenic Spermatogenic failure 56, Spermatogenic failure 56
RS2136960831 CD27 Health Risk Pathogenic —
RS2136964385 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS2136964542 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2136964738 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2136966486 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2136997832 PPP1R12A Health Risk Likely pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS2136998055 LRP6 Health Risk Pathogenic Tooth agenesis, selective
RS2136999020 POLR3B Health Risk Conflicting classifications of pathogenicity POLR3B-related disorder, POLR3B-related disorder
RS2137001936 POLR3B Health Risk Pathogenic —
RS2137001947 POLR3B Health Risk Pathogenic —
RS2137002084 POLR3B Health Risk Pathogenic —
RS2137005362 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS2137006602 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Ovarian serous cystadenocarcinoma
RS2137017154 POLR3B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, demyelinating
RS2137023331 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137025722 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2137026687 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137027657 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137028448 PPP1R12A Health Risk Pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS2137028850 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2137030040 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137030434 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2137030876 COX6A1 Health Risk Conflicting classifications of pathogenicity —
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