rs128621209

Orientation

minus

Stabilized

minus

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

Make rs128621209(A;A)

Make rs128621209(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101353264

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128621209
dbSNP (classic)	rs128621209
ClinGen	rs128621209
ebi	rs128621209
HLI	rs128621209
Exac	rs128621209
Gnomad	rs128621209
Varsome	rs128621209
LitVar	rs128621209
Map	rs128621209
PheGenI	rs128621209
Biobank	rs128621209
1000 genomes	rs128621209
hgdp	rs128621209
ensembl	rs128621209
geneview	rs128621209
scholar	rs128621209
google	rs128621209
pharmgkb	rs128621209
gwascentral	rs128621209
openSNP	rs128621209
23andMe	rs128621209
SNPshot	rs128621209
SNPdbe	rs128621209
MSV3d	rs128621209
GWAS Ctlg	rs128621209

Max Magnitude

0

OMIM	300300
Desc
Variant	0047
Related	also

ClinVar
Risk	rs128621209(A;A)
Alt	rs128621209(A;A)
Reference	Rs128621209(G;G)
Significance	Pathogenic
Disease	X-linked agammaglobulinemia
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia
Reversed	1
HGVS	NC_000023.10:g.100608252C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012141.11,