rs137853325

Orientation

plus

Stabilized

plus

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

Make rs137853325(C;C)

Make rs137853325(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154564450

Gene

IKBKG

is a	snp
is	mentioned by
dbSNP	rs137853325
dbSNP (classic)	rs137853325
ClinGen	rs137853325
ebi	rs137853325
HLI	rs137853325
Exac	rs137853325
Gnomad	rs137853325
Varsome	rs137853325
LitVar	rs137853325
Map	rs137853325
PheGenI	rs137853325
Biobank	rs137853325
1000 genomes	rs137853325
hgdp	rs137853325
ensembl	rs137853325
geneview	rs137853325
scholar	rs137853325
google	rs137853325
pharmgkb	rs137853325
gwascentral	rs137853325
openSNP	rs137853325
23andMe	rs137853325
SNPshot	rs137853325
SNPdbe	rs137853325
MSV3d	rs137853325
GWAS Ctlg	rs137853325

Max Magnitude

0

OMIM	300248
Desc
Variant	0009
Related	also

ClinVar
Risk	rs137853325(C;C)
Alt	rs137853325(C;C)
Reference	Rs137853325(T;T)
Significance	Pathogenic
Disease	Hypohidrotic ectodermal dysplasia with immune deficiency Hyper-IgM immunodeficiency
Variation	info
Gene	IKBKG
CLNDBN	Hypohidrotic ectodermal dysplasia with immune deficiency Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
Reversed	0
HGVS	NC_000023.10:g.153792665T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012207.11, RCV000012208.11,