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rs398124401

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124401(A;A)
Make rs398124401(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position55346393
GeneSRD5A3
is asnp
is mentioned by
dbSNPrs398124401
ebirs398124401
HLIrs398124401
Exacrs398124401
Varsomers398124401
Maprs398124401
PheGenIrs398124401
hapmaprs398124401
1000 genomesrs398124401
hgdprs398124401
ensemblrs398124401
gopubmedrs398124401
geneviewrs398124401
scholarrs398124401
googlers398124401
pharmgkbrs398124401
gwascentralrs398124401
openSNPrs398124401
23andMers398124401
23andMe allrs398124401
SNP Nexus

SNPshotrs398124401
SNPdbers398124401
MSV3drs398124401
GWAS Ctlgrs398124401
Max Magnitude0
ClinVar
Risk rs398124401(A;A)
Alt rs398124401(A;A)
Reference rs398124401(G;G)
Significance Pathogenic
Disease not provided Congenital disorder of glycosylation type 1Q
Variation info
Gene SRD5A3
CLNDBN not provided Congenital disorder of glycosylation type 1Q
Reversed 0
HGVS NC_000004.11:g.56212560G>A
CLNSRC HGMD
CLNACC RCV000082197.3, RCV000173528.1,