rs137853327

Orientation

plus

Stabilized

plus

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

Make rs137853327(A;T)

Make rs137853327(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154564418

Gene

IKBKG

is a	snp
is	mentioned by
dbSNP	rs137853327
dbSNP (classic)	rs137853327
ClinGen	rs137853327
ebi	rs137853327
HLI	rs137853327
Exac	rs137853327
Gnomad	rs137853327
Varsome	rs137853327
LitVar	rs137853327
Map	rs137853327
PheGenI	rs137853327
Biobank	rs137853327
1000 genomes	rs137853327
hgdp	rs137853327
ensembl	rs137853327
geneview	rs137853327
scholar	rs137853327
google	rs137853327
pharmgkb	rs137853327
gwascentral	rs137853327
openSNP	rs137853327
23andMe	rs137853327
SNPshot	rs137853327
SNPdbe	rs137853327
MSV3d	rs137853327
GWAS Ctlg	rs137853327

Max Magnitude

0

OMIM	300248
Desc
Variant	0011
Related	also

ClinVar
Risk	rs137853327(T;T)
Alt	rs137853327(T;T)
Reference	Rs137853327(A;A)
Significance	Pathogenic
Disease	Hyper-IgM immunodeficiency Hypohidrotic ectodermal dysplasia with immune deficiency
Variation	info
Gene	IKBKG
CLNDBN	Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immune deficiency
Reversed	0
HGVS	NC_000023.10:g.153792633A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012212.2, RCV000024285.11,