rs104894321

Orientation

minus

Stabilized

minus

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

Make rs104894321(C;C)

Make rs104894321(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

8605325

Gene

AICDA

is a	snp
is	mentioned by
dbSNP	rs104894321
dbSNP (classic)	rs104894321
ClinGen	rs104894321
ebi	rs104894321
HLI	rs104894321
Exac	rs104894321
Gnomad	rs104894321
Varsome	rs104894321
LitVar	rs104894321
Map	rs104894321
PheGenI	rs104894321
Biobank	rs104894321
1000 genomes	rs104894321
hgdp	rs104894321
ensembl	rs104894321
geneview	rs104894321
scholar	rs104894321
google	rs104894321
pharmgkb	rs104894321
gwascentral	rs104894321
openSNP	rs104894321
23andMe	rs104894321
SNPshot	rs104894321
SNPdbe	rs104894321
MSV3d	rs104894321
GWAS Ctlg	rs104894321

Max Magnitude

0

OMIM	605257
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894321(C;C)
Alt	rs104894321(C;C)
Reference	Rs104894321(T;T)
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.8757921A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005432.3,