rs128621193

Orientation

minus

Stabilized

minus

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

Make rs128621193(C;T)

Make rs128621193(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101360581

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128621193
dbSNP (classic)	rs128621193
ClinGen	rs128621193
ebi	rs128621193
HLI	rs128621193
Exac	rs128621193
Gnomad	rs128621193
Varsome	rs128621193
LitVar	rs128621193
Map	rs128621193
PheGenI	rs128621193
Biobank	rs128621193
1000 genomes	rs128621193
hgdp	rs128621193
ensembl	rs128621193
geneview	rs128621193
scholar	rs128621193
google	rs128621193
pharmgkb	rs128621193
gwascentral	rs128621193
openSNP	rs128621193
23andMe	rs128621193
SNPshot	rs128621193
SNPdbe	rs128621193
MSV3d	rs128621193
GWAS Ctlg	rs128621193

Max Magnitude

0

OMIM	300300
Desc
Variant	0022
Related	also

ClinVar
Risk	rs128621193(T;T)
Alt	rs128621193(T;T)
Reference	Rs128621193(C;C)
Significance	Pathogenic
Disease	X-linked agammaglobulinemia
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia
Reversed	1
HGVS	NC_000023.10:g.100615569G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012116.11,