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rs201552310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Congenital adrenal hyperplasia
(A;G) 3 Carrier of allele for congenital adrenal hyperplasia
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position32040140
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs201552310
ebirs201552310
HLIrs201552310
Exacrs201552310
Varsomers201552310
Maprs201552310
PheGenIrs201552310
hapmaprs201552310
1000 genomesrs201552310
hgdprs201552310
ensemblrs201552310
gopubmedrs201552310
geneviewrs201552310
scholarrs201552310
googlers201552310
pharmgkbrs201552310
gwascentralrs201552310
openSNPrs201552310
23andMers201552310
23andMe allrs201552310
SNP Nexus

SNPshotrs201552310
SNPdbers201552310
MSV3drs201552310
GWAS Ctlgrs201552310
Max Magnitude5
ClinVar
Risk rs201552310(A,C;A,C)
Alt rs201552310(A,C;A,C)
Reference rs201552310(G;G)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32007917G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012940.2,