Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607092
rs267607092
SRD5A3 ; SRD5A3-AS1
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C3277940
Disease: Generalized hypertrichosis
Generalized hypertrichosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C0017601
Disease: Glaucoma
Glaucoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607094
rs267607094
SRD5A3
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607095
rs267607095
SRD5A3 ; SRD5A3-AS1
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		T 0.700 CausalMutation CLINVAR

dbSNP: rs398124401
rs398124401
SRD5A3
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		A 0.700 CausalMutation CLINVAR Life with too much polyprenol: polyprenol reductase deficiency. 22304929

2012
dbSNP: rs398124401
rs398124401
SRD5A3
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		A 0.700 CausalMutation CLINVAR A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. 20852264

2010
dbSNP: rs398124401
rs398124401
SRD5A3
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398124401
rs398124401
SRD5A3
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398124401
rs398124401
SRD5A3
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398124401
rs398124401
SRD5A3
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398124401
rs398124401
SRD5A3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398124401
rs398124401
SRD5A3
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		A 0.700 CausalMutation CLINVAR