rs128621203

Orientation

minus

Stabilized

minus

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

Make rs128621203(C;C)

Make rs128621203(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101354636

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128621203
dbSNP (classic)	rs128621203
ClinGen	rs128621203
ebi	rs128621203
HLI	rs128621203
Exac	rs128621203
Gnomad	rs128621203
Varsome	rs128621203
LitVar	rs128621203
Map	rs128621203
PheGenI	rs128621203
Biobank	rs128621203
1000 genomes	rs128621203
hgdp	rs128621203
ensembl	rs128621203
geneview	rs128621203
scholar	rs128621203
google	rs128621203
pharmgkb	rs128621203
gwascentral	rs128621203
openSNP	rs128621203
23andMe	rs128621203
SNPshot	rs128621203
SNPdbe	rs128621203
MSV3d	rs128621203
GWAS Ctlg	rs128621203

Max Magnitude

0

OMIM	300300
Desc
Variant	0040
Related	also

ClinVar
Risk	rs128621203(C;C)
Alt	rs128621203(C;C)
Reference	Rs128621203(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.100609624A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012134.11,