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rs111647200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111647200(A;A)
Make rs111647200(A;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position32039807
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs111647200
ebirs111647200
HLIrs111647200
Exacrs111647200
Varsomers111647200
Maprs111647200
PheGenIrs111647200
hapmaprs111647200
1000 genomesrs111647200
hgdprs111647200
ensemblrs111647200
gopubmedrs111647200
geneviewrs111647200
scholarrs111647200
googlers111647200
pharmgkbrs111647200
gwascentralrs111647200
openSNPrs111647200
23andMers111647200
23andMe allrs111647200
SNP Nexus

SNPshotrs111647200
SNPdbers111647200
MSV3drs111647200
GWAS Ctlgrs111647200
Merged fromRs151344502
Max Magnitude0
ClinVar
Risk rs111647200(A;A)
Alt rs111647200(A;A)
Reference rs111647200(T;T)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32007584T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012947.2,