rs128621197

Orientation

minus

Stabilized

minus

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

Make rs128621197(G;G)

Make rs128621197(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101357561

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128621197
dbSNP (classic)	rs128621197
ClinGen	rs128621197
ebi	rs128621197
HLI	rs128621197
Exac	rs128621197
Gnomad	rs128621197
Varsome	rs128621197
LitVar	rs128621197
Map	rs128621197
PheGenI	rs128621197
Biobank	rs128621197
1000 genomes	rs128621197
hgdp	rs128621197
ensembl	rs128621197
geneview	rs128621197
scholar	rs128621197
google	rs128621197
pharmgkb	rs128621197
gwascentral	rs128621197
openSNP	rs128621197
23andMe	rs128621197
SNPshot	rs128621197
SNPdbe	rs128621197
MSV3d	rs128621197
GWAS Ctlg	rs128621197

Max Magnitude

0

OMIM	300300
Desc
Variant	0030
Related	also

ClinVar
Risk	rs128621197(G;G)
Alt	rs128621197(G;G)
Reference	Rs128621197(T;T)
Significance	Pathogenic
Disease	X-linked agammaglobulinemia with growth hormone deficiency
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia with growth hormone deficiency
Reversed	1
HGVS	NC_000023.10:g.100612549A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012124.2,