rs104894323

Orientation

minus

Stabilized

minus

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

Make rs104894323(A;A)

Make rs104894323(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

8604909

Gene

AICDA

is a	snp
is	mentioned by
dbSNP	rs104894323
dbSNP (classic)	rs104894323
ClinGen	rs104894323
ebi	rs104894323
HLI	rs104894323
Exac	rs104894323
Gnomad	rs104894323
Varsome	rs104894323
LitVar	rs104894323
Map	rs104894323
PheGenI	rs104894323
Biobank	rs104894323
1000 genomes	rs104894323
hgdp	rs104894323
ensembl	rs104894323
geneview	rs104894323
scholar	rs104894323
google	rs104894323
pharmgkb	rs104894323
gwascentral	rs104894323
openSNP	rs104894323
23andMe	rs104894323
SNPshot	rs104894323
SNPdbe	rs104894323
MSV3d	rs104894323
GWAS Ctlg	rs104894323

Max Magnitude

0

OMIM	605257
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894323(A;A)
Alt	rs104894323(A;A)
Reference	Rs104894323(C;C)
Significance	Pathogenic
Disease	Immunodeficiency with hyper IgM type 2
Variation	info
Gene	AICDA
CLNDBN	Immunodeficiency with hyper IgM type 2
Reversed	1
HGVS	NC_000012.11:g.8757505G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005434.3,