rs128621196

Orientation

minus

Stabilized

minus

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

Make rs128621196(A;C)

Make rs128621196(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101358411

Gene

BTK

is a	snp
is	mentioned by
dbSNP	rs128621196
dbSNP (classic)	rs128621196
ClinGen	rs128621196
ebi	rs128621196
HLI	rs128621196
Exac	rs128621196
Gnomad	rs128621196
Varsome	rs128621196
LitVar	rs128621196
Map	rs128621196
PheGenI	rs128621196
Biobank	rs128621196
1000 genomes	rs128621196
hgdp	rs128621196
ensembl	rs128621196
geneview	rs128621196
scholar	rs128621196
google	rs128621196
pharmgkb	rs128621196
gwascentral	rs128621196
openSNP	rs128621196
23andMe	rs128621196
SNPshot	rs128621196
SNPdbe	rs128621196
MSV3d	rs128621196
GWAS Ctlg	rs128621196

Max Magnitude

0

OMIM	300300
Desc
Variant	0027
Related	also

ClinVar
Risk	rs128621196(C;C)
Alt	rs128621196(C;C)
Reference	Rs128621196(A;A)
Significance	Pathogenic
Disease	X-linked agammaglobulinemia
Variation	info
Gene	BTK
CLNDBN	X-linked agammaglobulinemia
Reversed	1
HGVS	NC_000023.10:g.100613399T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012121.2,