rs128621194

Orientation

minus

Stabilized

minus

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

Make rs128621194(C;T)

Make rs128621194(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101359325

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128621194
dbSNP (classic)	rs128621194
ClinGen	rs128621194
ebi	rs128621194
HLI	rs128621194
Exac	rs128621194
Gnomad	rs128621194
Varsome	rs128621194
LitVar	rs128621194
Map	rs128621194
PheGenI	rs128621194
Biobank	rs128621194
1000 genomes	rs128621194
hgdp	rs128621194
ensembl	rs128621194
geneview	rs128621194
scholar	rs128621194
google	rs128621194
pharmgkb	rs128621194
gwascentral	rs128621194
openSNP	rs128621194
23andMe	rs128621194
SNPshot	rs128621194
SNPdbe	rs128621194
MSV3d	rs128621194
GWAS Ctlg	rs128621194

Max Magnitude

0

OMIM	300300
Desc
Variant	0025
Related	also

ClinVar
Risk	rs128621194(T;T)
Alt	rs128621194(T;T)
Reference	Rs128621194(C;C)
Significance	Pathogenic
Disease	X-linked agammaglobulinemia
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia
Reversed	1
HGVS	NC_000023.10:g.100614313G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012119.11,