rs128620189

Orientation

minus

Stabilized

minus

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

Make rs128620189(A;C)

Make rs128620189(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101375188

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128620189
dbSNP (classic)	rs128620189
ClinGen	rs128620189
ebi	rs128620189
HLI	rs128620189
Exac	rs128620189
Gnomad	rs128620189
Varsome	rs128620189
LitVar	rs128620189
Map	rs128620189
PheGenI	rs128620189
Biobank	rs128620189
1000 genomes	rs128620189
hgdp	rs128620189
ensembl	rs128620189
geneview	rs128620189
scholar	rs128620189
google	rs128620189
pharmgkb	rs128620189
gwascentral	rs128620189
openSNP	rs128620189
23andMe	rs128620189
SNPshot	rs128620189
SNPdbe	rs128620189
MSV3d	rs128620189
GWAS Ctlg	rs128620189

Max Magnitude

0

OMIM	300300
Desc
Variant	0010
Related	also

ClinVar
Risk	rs128620189(C;C)
Alt	rs128620189(C;C)
Reference	Rs128620189(A;A)
Significance	Pathogenic
Disease	X-linked agammaglobulinemia
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia
Reversed	1
HGVS	NC_000023.10:g.100630176T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012104.2,