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rs267607095

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607095(C;T)
Make rs267607095(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position55364133
GeneSRD5A3
is asnp
is mentioned by
dbSNPrs267607095
ebirs267607095
HLIrs267607095
Exacrs267607095
Varsomers267607095
Maprs267607095
PheGenIrs267607095
hapmaprs267607095
1000 genomesrs267607095
hgdprs267607095
ensemblrs267607095
gopubmedrs267607095
geneviewrs267607095
scholarrs267607095
googlers267607095
pharmgkbrs267607095
gwascentralrs267607095
openSNPrs267607095
23andMers267607095
23andMe allrs267607095
SNP Nexus

SNPshotrs267607095
SNPdbers267607095
MSV3drs267607095
GWAS Ctlgrs267607095
Max Magnitude0
ClinVar
Risk rs267607095(T;T)
Alt rs267607095(T;T)
Reference rs267607095(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.56230300C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000892.2,