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rs786204728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCGTGGAGAT;TCGTGGAGAT) 0 common in clinvar
Make rs786204728(ACGAGGAGAA;ACGAGGAGAA)
Make rs786204728(ACGAGGAGAA;TCGTGGAGAT)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position32039807
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs786204728
dbSNP (old)rs786204728
ClinGenrs786204728
ebirs786204728
HLIrs786204728
Exacrs786204728
Gnomadrs786204728
Varsomers786204728
Maprs786204728
PheGenIrs786204728
Biobankrs786204728
1000 genomesrs786204728
hgdprs786204728
ensemblrs786204728
gopubmedrs786204728
geneviewrs786204728
scholarrs786204728
googlers786204728
pharmgkbrs786204728
gwascentralrs786204728
openSNPrs786204728
23andMers786204728
23andMe allrs786204728
SNP Nexus

SNPshotrs786204728
SNPdbers786204728
MSV3drs786204728
GWAS Ctlgrs786204728
Max Magnitude0
ClinVar
Risk rs786204728(ACGAGGAGAA;ACGAGGAGAA)
Alt rs786204728(ACGAGGAGAA;ACGAGGAGAA)
Reference Rs786204728(TCGTGGAGAT;TCGTGGAGAT)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32007584_32007593delTCGTGGAGATinsACGAGGAGAA
CLNSRC
CLNACC RCV000169566.1,