rs128621190

Orientation

minus

Stabilized

minus

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

Make rs128621190(A;A)

Make rs128621190(A;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101370051

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128621190
dbSNP (classic)	rs128621190
ClinGen	rs128621190
ebi	rs128621190
HLI	rs128621190
Exac	rs128621190
Gnomad	rs128621190
Varsome	rs128621190
LitVar	rs128621190
Map	rs128621190
PheGenI	rs128621190
Biobank	rs128621190
1000 genomes	rs128621190
hgdp	rs128621190
ensembl	rs128621190
geneview	rs128621190
scholar	rs128621190
google	rs128621190
pharmgkb	rs128621190
gwascentral	rs128621190
openSNP	rs128621190
23andMe	rs128621190
SNPshot	rs128621190
SNPdbe	rs128621190
MSV3d	rs128621190
GWAS Ctlg	rs128621190

Max Magnitude

0

OMIM	300300
Desc
Variant	0015
Related	also

ClinVar
Risk	rs128621190(A;A)
Alt	rs128621190(A;A)
Reference	Rs128621190(T;T)
Significance	Pathogenic
Disease	X-linked agammaglobulinemia
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia
Reversed	1
HGVS	NC_000023.10:g.100625039A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012109.11,