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rs397509367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 Congenital adrenal hyperplasia
(C;GG) 3 Carrier of allele for congenital adrenal hyperplasia
(GG;GG) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position32041097
GeneCYP21A2, TNXB
is asnp
is mentioned by
dbSNPrs397509367
ebirs397509367
HLIrs397509367
Exacrs397509367
Varsomers397509367
Maprs397509367
PheGenIrs397509367
hapmaprs397509367
1000 genomesrs397509367
hgdprs397509367
ensemblrs397509367
gopubmedrs397509367
geneviewrs397509367
scholarrs397509367
googlers397509367
pharmgkbrs397509367
gwascentralrs397509367
openSNPrs397509367
23andMers397509367
23andMe allrs397509367
SNP Nexus

SNPshotrs397509367
SNPdbers397509367
MSV3drs397509367
GWAS Ctlgrs397509367
Max Magnitude5
ClinVar
Risk rs397509367(C;C)
Alt rs397509367(C;C)
Reference rs397509367(GG;GG)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene TNXB CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32008874_32008875delGGinsC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012941.2,