rs387906328
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCGGAGGAAGTTTCTTTAC;CCGGAGGAAGTTTCTTTAC) | 0 | common/normal |
(CGGAGGAAGTTTCTTTACC;CGGAGGAAGTTTCTTTACC) | 0 | common in clinvar |
Make rs387906328(-;-) |
Make rs387906328(-;CCGGAGGAAGTTTCTTTAC) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 8606982 |
Gene | AICDA |
is a | snp |
is | mentioned by |
dbSNP | rs387906328 |
dbSNP (classic) | rs387906328 |
ClinGen | rs387906328 |
ebi | rs387906328 |
HLI | rs387906328 |
Exac | rs387906328 |
Gnomad | rs387906328 |
Varsome | rs387906328 |
LitVar | rs387906328 |
Map | rs387906328 |
PheGenI | rs387906328 |
Biobank | rs387906328 |
1000 genomes | rs387906328 |
hgdp | rs387906328 |
ensembl | rs387906328 |
geneview | rs387906328 |
scholar | rs387906328 |
rs387906328 | |
pharmgkb | rs387906328 |
gwascentral | rs387906328 |
openSNP | rs387906328 |
23andMe | rs387906328 |
SNPshot | rs387906328 |
SNPdbe | rs387906328 |
MSV3d | rs387906328 |
GWAS Ctlg | rs387906328 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906328(-;-) |
Alt | rs387906328(-;-) |
Reference | Rs387906328(CGGAGGAAGTTTCTTTACC;CGGAGGAAGTTTCTTTACC) |
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.8759578_8759596del19 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005436.3, |