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rs6445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 3 Carrier of allele for congenital adrenal hyperplasia
(T;T) 5 Congenital adrenal hyperplasia
ReferenceGRCh38 38.1/141
Chromosome6
Position32041006
GeneCYP21A2, TNXB
is asnp
is mentioned by
dbSNPrs6445
dbSNP (classic)rs6445
ClinGenrs6445
ebirs6445
HLIrs6445
Exacrs6445
Gnomadrs6445
Varsomers6445
LitVarrs6445
Maprs6445
PheGenIrs6445
Biobankrs6445
1000 genomesrs6445
hgdprs6445
ensemblrs6445
geneviewrs6445
scholarrs6445
googlers6445
pharmgkbrs6445
gwascentralrs6445
openSNPrs6445
23andMers6445
SNPshotrs6445
SNPdbers6445
MSV3drs6445
GWAS Ctlgrs6445
Max Magnitude5
OMIM201910
Desc
Variant0010
Relatedalso
ClinVar
Risk Rs6445(T;T)
Alt Rs6445(T;T)
Reference Rs6445(C;C)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene TNXB CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32008783C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012943.3,