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rs9378252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 1 benign
(T;T) 1 benign
ReferenceGRCh38 38.1/141
Chromosome6
Position32038610
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs9378252
dbSNP (classic)rs9378252
ClinGenrs9378252
ebirs9378252
HLIrs9378252
Exacrs9378252
Gnomadrs9378252
Varsomers9378252
LitVarrs9378252
Maprs9378252
PheGenIrs9378252
Biobankrs9378252
1000 genomesrs9378252
hgdprs9378252
ensemblrs9378252
geneviewrs9378252
scholarrs9378252
googlers9378252
pharmgkbrs9378252
gwascentralrs9378252
openSNPrs9378252
23andMers9378252
SNPshotrs9378252
SNPdbers9378252
MSV3drs9378252
GWAS Ctlgrs9378252
Max Magnitude1
OMIM201910
Desc
Variant0034
Relatedalso


ClinVar
Risk Rs9378252(T;T)
Alt Rs9378252(T;T)
Reference Rs9378252(A;A)
Significance Pathogenic
Disease 21-hydroxylase deficiency not specified
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency not specified
Reversed 0
HGVS NC_000006.11:g.32006387A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012965.3, RCV000173141.1,