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rs6471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 3 Carrier of allele for congenital adrenal hyperplasia
(T;T) 5 Congenital adrenal hyperplasia
ReferenceGRCh38 38.1/141
Chromosome6
Position32040110
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs6471
ebirs6471
HLIrs6471
Exacrs6471
Varsomers6471
Maprs6471
PheGenIrs6471
hapmaprs6471
1000 genomesrs6471
hgdprs6471
ensemblrs6471
gopubmedrs6471
geneviewrs6471
scholarrs6471
googlers6471
pharmgkbrs6471
gwascentralrs6471
openSNPrs6471
23andMers6471
23andMe allrs6471
SNP Nexus

SNPshotrs6471
SNPdbers6471
MSV3drs6471
GWAS Ctlgrs6471
Max Magnitude5

[PMID 20617557] Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy

[PMID 20685352] Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy

OMIM201910
Desc
Variant0002
Relatedalso
ClinVar
Risk rs6471(A,C,T;A,C,T)
Alt rs6471(A,C,T;A,C,T)
Reference rs6471(G;G)
Significance Pathogenic
Disease 21-hydroxylase deficiency Adenoma Carcinoma Inborn genetic diseases
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency Adenoma, cortisol-producing Carcinoma, adrenocortical, androgen-secreting Inborn genetic diseases
Reversed 0
HGVS NC_000006.11:g.32007887G>C; NC_000006.11:g.32007887G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000055820.1, RCV000012934.3, RCV000012935.2, RCV000012936.2, RCV000210728.1,


GET Evidence
NM_000500-L278V
aa_change Leu278Val
aa_change_short L278V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary