rs104894324

Orientation

minus

Stabilized

minus

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

Make rs104894324(C;T)

Make rs104894324(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

8606951

Gene

AICDA

is a	snp
is	mentioned by
dbSNP	rs104894324
dbSNP (classic)	rs104894324
ClinGen	rs104894324
ebi	rs104894324
HLI	rs104894324
Exac	rs104894324
Gnomad	rs104894324
Varsome	rs104894324
LitVar	rs104894324
Map	rs104894324
PheGenI	rs104894324
Biobank	rs104894324
1000 genomes	rs104894324
hgdp	rs104894324
ensembl	rs104894324
geneview	rs104894324
scholar	rs104894324
google	rs104894324
pharmgkb	rs104894324
gwascentral	rs104894324
openSNP	rs104894324
23andMe	rs104894324
SNPshot	rs104894324
SNPdbe	rs104894324
MSV3d	rs104894324
GWAS Ctlg	rs104894324

Max Magnitude

0

OMIM	605257
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894324(T;T)
Alt	rs104894324(T;T)
Reference	Rs104894324(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.8759547G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005429.3,