rs128620185

Orientation

minus

Stabilized

minus

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

Make rs128620185(A;A)

Make rs128620185(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101375202

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128620185
dbSNP (classic)	rs128620185
ClinGen	rs128620185
ebi	rs128620185
HLI	rs128620185
Exac	rs128620185
Gnomad	rs128620185
Varsome	rs128620185
LitVar	rs128620185
Map	rs128620185
PheGenI	rs128620185
Biobank	rs128620185
1000 genomes	rs128620185
hgdp	rs128620185
ensembl	rs128620185
geneview	rs128620185
scholar	rs128620185
google	rs128620185
pharmgkb	rs128620185
gwascentral	rs128620185
openSNP	rs128620185
23andMe	rs128620185
SNPshot	rs128620185
SNPdbe	rs128620185
MSV3d	rs128620185
GWAS Ctlg	rs128620185

Max Magnitude

0

OMIM	300300
Desc
Variant	0005
Related	also

ClinVar
Risk	rs128620185(A;A)
Alt	rs128620185(A;A)
Reference	Rs128620185(G;G)
Significance	Pathogenic
Disease	X-linked agammaglobulinemia not provided
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia not provided
Reversed	1
HGVS	NC_000023.10:g.100630190C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012101.17, RCV000427660.1,