rs104894325
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894325(A;A) |
Make rs104894325(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 8605439 |
Gene | AICDA |
is a | snp |
is | mentioned by |
dbSNP | rs104894325 |
dbSNP (classic) | rs104894325 |
ClinGen | rs104894325 |
ebi | rs104894325 |
HLI | rs104894325 |
Exac | rs104894325 |
Gnomad | rs104894325 |
Varsome | rs104894325 |
LitVar | rs104894325 |
Map | rs104894325 |
PheGenI | rs104894325 |
Biobank | rs104894325 |
1000 genomes | rs104894325 |
hgdp | rs104894325 |
ensembl | rs104894325 |
geneview | rs104894325 |
scholar | rs104894325 |
rs104894325 | |
pharmgkb | rs104894325 |
gwascentral | rs104894325 |
openSNP | rs104894325 |
23andMe | rs104894325 |
SNPshot | rs104894325 |
SNPdbe | rs104894325 |
MSV3d | rs104894325 |
GWAS Ctlg | rs104894325 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894325(A;A) |
Alt | rs104894325(A;A) |
Reference | Rs104894325(G;G) |
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.8758035C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005430.3, |