rs1064422

Orientation

minus

Stabilized

minus

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

Make rs1064422(C;T)

Make rs1064422(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

23573483

Gene	IGLL1, LOC105372957

is a	snp
is	mentioned by
dbSNP	rs1064422
dbSNP (classic)	rs1064422
ClinGen	rs1064422
ebi	rs1064422
HLI	rs1064422
Exac	rs1064422
Gnomad	rs1064422
Varsome	rs1064422
LitVar	rs1064422
Map	rs1064422
PheGenI	rs1064422
Biobank	rs1064422
1000 genomes	rs1064422
hgdp	rs1064422
ensembl	rs1064422
geneview	rs1064422
scholar	rs1064422
google	rs1064422
pharmgkb	rs1064422
gwascentral	rs1064422
openSNP	rs1064422
23andMe	rs1064422
SNPshot	rs1064422
SNPdbe	rs1064422
MSV3d	rs1064422
GWAS Ctlg	rs1064422

Max Magnitude

0

OMIM	146770
Desc	AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE
Variant	0002
Related	also

ClinVar
Risk	rs1064422(T;T)
Alt	rs1064422(T;T)
Reference	Rs1064422(C;C)
Significance	Pathogenic
Disease	Agammaglobulinemia 2
Variation	info
Gene	IGLL1
CLNDBN	Agammaglobulinemia 2, autosomal recessive
Reversed	1
HGVS	NC_000022.10:g.23915670G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015949.29,