rs104894327

Orientation

minus

Stabilized

minus

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

Make rs104894327(C;C)

Make rs104894327(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

8604898

Gene

AICDA

is a	snp
is	mentioned by
dbSNP	rs104894327
dbSNP (classic)	rs104894327
ClinGen	rs104894327
ebi	rs104894327
HLI	rs104894327
Exac	rs104894327
Gnomad	rs104894327
Varsome	rs104894327
LitVar	rs104894327
Map	rs104894327
PheGenI	rs104894327
Biobank	rs104894327
1000 genomes	rs104894327
hgdp	rs104894327
ensembl	rs104894327
geneview	rs104894327
scholar	rs104894327
google	rs104894327
pharmgkb	rs104894327
gwascentral	rs104894327
openSNP	rs104894327
23andMe	rs104894327
SNPshot	rs104894327
SNPdbe	rs104894327
MSV3d	rs104894327
GWAS Ctlg	rs104894327

Max Magnitude

0

OMIM	605257
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894327(C;C)
Alt	rs104894327(C;C)
Reference	Rs104894327(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.8757494A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005435.3,