rs128620188

Orientation

minus

Stabilized

minus

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

Make rs128620188(C;T)

Make rs128620188(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101375242

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128620188
dbSNP (classic)	rs128620188
ClinGen	rs128620188
ebi	rs128620188
HLI	rs128620188
Exac	rs128620188
Gnomad	rs128620188
Varsome	rs128620188
LitVar	rs128620188
Map	rs128620188
PheGenI	rs128620188
Biobank	rs128620188
1000 genomes	rs128620188
hgdp	rs128620188
ensembl	rs128620188
geneview	rs128620188
scholar	rs128620188
google	rs128620188
pharmgkb	rs128620188
gwascentral	rs128620188
openSNP	rs128620188
23andMe	rs128620188
SNPshot	rs128620188
SNPdbe	rs128620188
MSV3d	rs128620188
GWAS Ctlg	rs128620188

Max Magnitude

0

OMIM	300300
Desc
Variant	0009
Related	also

ClinVar
Risk	rs128620188(T;T)
Alt	rs128620188(T;T)
Reference	Rs128620188(C;C)
Significance	Pathogenic
Disease	X-linked agammaglobulinemia
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia
Reversed	1
HGVS	NC_000023.10:g.100630230G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012098.11,