rs104894322

Orientation

minus

Stabilized

minus

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

Make rs104894322(A;G)

Make rs104894322(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

8605227

Gene

AICDA

is a	snp
is	mentioned by
dbSNP	rs104894322
dbSNP (classic)	rs104894322
ClinGen	rs104894322
ebi	rs104894322
HLI	rs104894322
Exac	rs104894322
Gnomad	rs104894322
Varsome	rs104894322
LitVar	rs104894322
Map	rs104894322
PheGenI	rs104894322
Biobank	rs104894322
1000 genomes	rs104894322
hgdp	rs104894322
ensembl	rs104894322
geneview	rs104894322
scholar	rs104894322
google	rs104894322
pharmgkb	rs104894322
gwascentral	rs104894322
openSNP	rs104894322
23andMe	rs104894322
SNPshot	rs104894322
SNPdbe	rs104894322
MSV3d	rs104894322
GWAS Ctlg	rs104894322

Max Magnitude

0

OMIM	605257
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894322(G;G)
Alt	rs104894322(G;G)
Reference	Rs104894322(A;A)
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.8757823T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005433.3,