rs786204728

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(TCGTGGAGAT;TCGTGGAGAT)	0	common in clinvar

Make rs786204728(ACGAGGAGAA;ACGAGGAGAA)

Make rs786204728(ACGAGGAGAA;TCGTGGAGAT)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

32039807

Gene

CYP21A2

is a	snp
is	mentioned by
dbSNP	rs786204728
dbSNP (classic)	rs786204728
ClinGen	rs786204728
ebi	rs786204728
HLI	rs786204728
Exac	rs786204728
Gnomad	rs786204728
Varsome	rs786204728
LitVar	rs786204728
Map	rs786204728
PheGenI	rs786204728
Biobank	rs786204728
1000 genomes	rs786204728
hgdp	rs786204728
ensembl	rs786204728
geneview	rs786204728
scholar	rs786204728
google	rs786204728
pharmgkb	rs786204728
gwascentral	rs786204728
openSNP	rs786204728
23andMe	rs786204728
SNPshot	rs786204728
SNPdbe	rs786204728
MSV3d	rs786204728
GWAS Ctlg	rs786204728

Max Magnitude

0

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,