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rs267607092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607092(A;A)
Make rs267607092(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position55364198
GeneSRD5A3
is asnp
is mentioned by
dbSNPrs267607092
ebirs267607092
HLIrs267607092
Exacrs267607092
Varsomers267607092
Maprs267607092
PheGenIrs267607092
hapmaprs267607092
1000 genomesrs267607092
hgdprs267607092
ensemblrs267607092
gopubmedrs267607092
geneviewrs267607092
scholarrs267607092
googlers267607092
pharmgkbrs267607092
gwascentralrs267607092
openSNPrs267607092
23andMers267607092
23andMe allrs267607092
SNP Nexus

SNPshotrs267607092
SNPdbers267607092
MSV3drs267607092
GWAS Ctlgrs267607092
Max Magnitude0
ClinVar
Risk rs267607092(A;A)
Alt rs267607092(A;A)
Reference rs267607092(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.56230365C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000893.2,