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rs606231200

From SNPedia

Merged intors267606756
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs606231200(-;T)
Make rs606231200(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position32040187
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs606231200
dbSNP (classic)rs606231200
ClinGenrs606231200
ebirs606231200
HLIrs606231200
Exacrs606231200
Gnomadrs606231200
Varsomers606231200
LitVarrs606231200
Maprs606231200
PheGenIrs606231200
Biobankrs606231200
1000 genomesrs606231200
hgdprs606231200
ensemblrs606231200
geneviewrs606231200
scholarrs606231200
googlers606231200
pharmgkbrs606231200
gwascentralrs606231200
openSNPrs606231200
23andMers606231200
SNPshotrs606231200
SNPdbers606231200
MSV3drs606231200
GWAS Ctlgrs606231200
StatusMerged into rs267606756
Max Magnitude0
ClinVar
Risk rs606231200(T;T)
Alt rs606231200(T;T)
Reference Rs606231200(;)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32007966dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000055821.3,