rs128620184

Orientation

minus

Stabilized

minus

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

Make rs128620184(A;G)

Make rs128620184(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101356845

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128620184
dbSNP (classic)	rs128620184
ClinGen	rs128620184
ebi	rs128620184
HLI	rs128620184
Exac	rs128620184
Gnomad	rs128620184
Varsome	rs128620184
LitVar	rs128620184
Map	rs128620184
PheGenI	rs128620184
Biobank	rs128620184
1000 genomes	rs128620184
hgdp	rs128620184
ensembl	rs128620184
geneview	rs128620184
scholar	rs128620184
google	rs128620184
pharmgkb	rs128620184
gwascentral	rs128620184
openSNP	rs128620184
23andMe	rs128620184
SNPshot	rs128620184
SNPdbe	rs128620184
MSV3d	rs128620184
GWAS Ctlg	rs128620184

Max Magnitude

0

OMIM	300300
Desc
Variant	0002
Related	also

ClinVar
Risk	rs128620184(G;G)
Alt	rs128620184(G;G)
Reference	Rs128620184(A;A)
Significance	Pathogenic
Disease	X-linked agammaglobulinemia
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia
Reversed	1
HGVS	NC_000023.10:g.100611833T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012096.2,