rs128621208

Orientation

minus

Stabilized

minus

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

Make rs128621208(A;A)

Make rs128621208(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101353282

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128621208
dbSNP (classic)	rs128621208
ClinGen	rs128621208
ebi	rs128621208
HLI	rs128621208
Exac	rs128621208
Gnomad	rs128621208
Varsome	rs128621208
LitVar	rs128621208
Map	rs128621208
PheGenI	rs128621208
Biobank	rs128621208
1000 genomes	rs128621208
hgdp	rs128621208
ensembl	rs128621208
geneview	rs128621208
scholar	rs128621208
google	rs128621208
pharmgkb	rs128621208
gwascentral	rs128621208
openSNP	rs128621208
23andMe	rs128621208
SNPshot	rs128621208
SNPdbe	rs128621208
MSV3d	rs128621208
GWAS Ctlg	rs128621208

Max Magnitude

0

OMIM	300300
Desc
Variant	0046
Related	also

ClinVar
Risk	rs128621208(A;A)
Alt	rs128621208(A;A)
Reference	Rs128621208(C;C)
Significance	Pathogenic
Disease	X-linked agammaglobulinemia
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia
Reversed	1
HGVS	NC_000023.10:g.100608270G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012140.11,