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rs267607094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607094(A;A)
Make rs267607094(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position55346365
GeneSRD5A3
is asnp
is mentioned by
dbSNPrs267607094
ebirs267607094
HLIrs267607094
Exacrs267607094
Varsomers267607094
Maprs267607094
PheGenIrs267607094
hapmaprs267607094
1000 genomesrs267607094
hgdprs267607094
ensemblrs267607094
gopubmedrs267607094
geneviewrs267607094
scholarrs267607094
googlers267607094
pharmgkbrs267607094
gwascentralrs267607094
openSNPrs267607094
23andMers267607094
23andMe allrs267607094
SNP Nexus

SNPshotrs267607094
SNPdbers267607094
MSV3drs267607094
GWAS Ctlgrs267607094
Max Magnitude0
ClinVar
Risk rs267607094(A;A)
Alt rs267607094(A;A)
Reference rs267607094(C;C)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1Q
Variation info
Gene SRD5A3
CLNDBN Congenital disorder of glycosylation type 1Q
Reversed 0
HGVS NC_000004.11:g.56212532C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000894.2,