rs193922125

Orientation

minus

Stabilized

minus

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

Make rs193922125(A;T)

Make rs193922125(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101356107

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs193922125
dbSNP (classic)	rs193922125
ClinGen	rs193922125
ebi	rs193922125
HLI	rs193922125
Exac	rs193922125
Gnomad	rs193922125
Varsome	rs193922125
LitVar	rs193922125
Map	rs193922125
PheGenI	rs193922125
Biobank	rs193922125
1000 genomes	rs193922125
hgdp	rs193922125
ensembl	rs193922125
geneview	rs193922125
scholar	rs193922125
google	rs193922125
pharmgkb	rs193922125
gwascentral	rs193922125
openSNP	rs193922125
23andMe	rs193922125
SNPshot	rs193922125
SNPdbe	rs193922125
MSV3d	rs193922125
GWAS Ctlg	rs193922125

Max Magnitude

0

ClinVar
Risk	rs193922125(T;T)
Alt	rs193922125(T;T)
Reference	Rs193922125(A;A)
Significance	Probable-Pathogenic
Disease	X-linked agammaglobulinemia
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia
Reversed	1
HGVS	NC_000023.10:g.100611095T>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029410.1,

[PMID 15661032] Genetic analysis of patients with defects in early B-cell development.