rs104894320

Orientation

minus

Stabilized

minus

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

Make rs104894320(C;C)

Make rs104894320(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

8605404

Gene

AICDA

is a	snp
is	mentioned by
dbSNP	rs104894320
dbSNP (classic)	rs104894320
ClinGen	rs104894320
ebi	rs104894320
HLI	rs104894320
Exac	rs104894320
Gnomad	rs104894320
Varsome	rs104894320
LitVar	rs104894320
Map	rs104894320
PheGenI	rs104894320
Biobank	rs104894320
1000 genomes	rs104894320
hgdp	rs104894320
ensembl	rs104894320
geneview	rs104894320
scholar	rs104894320
google	rs104894320
pharmgkb	rs104894320
gwascentral	rs104894320
openSNP	rs104894320
23andMe	rs104894320
SNPshot	rs104894320
SNPdbe	rs104894320
MSV3d	rs104894320
GWAS Ctlg	rs104894320

Max Magnitude

0

OMIM	605257
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894320(C;C)
Alt	rs104894320(C;C)
Reference	Rs104894320(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.8758000A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005431.3,