rs387906411
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387906411(A;A) |
Make rs387906411(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 44910781 |
Gene | ITGB2, LOC107987303 |
is a | snp |
is | mentioned by |
dbSNP | rs387906411 |
dbSNP (classic) | rs387906411 |
ClinGen | rs387906411 |
ebi | rs387906411 |
HLI | rs387906411 |
Exac | rs387906411 |
Gnomad | rs387906411 |
Varsome | rs387906411 |
LitVar | rs387906411 |
Map | rs387906411 |
PheGenI | rs387906411 |
Biobank | rs387906411 |
1000 genomes | rs387906411 |
hgdp | rs387906411 |
ensembl | rs387906411 |
geneview | rs387906411 |
scholar | rs387906411 |
rs387906411 | |
pharmgkb | rs387906411 |
gwascentral | rs387906411 |
openSNP | rs387906411 |
23andMe | rs387906411 |
SNPshot | rs387906411 |
SNPdbe | rs387906411 |
MSV3d | rs387906411 |
GWAS Ctlg | rs387906411 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906411(A;A) |
Alt | rs387906411(A;A) |
Reference | Rs387906411(T;T) |
Significance | Pathogenic |
Disease | Leukocyte adhesion deficiency |
Variation | info |
Gene | ITGB2 |
CLNDBN | Leukocyte adhesion deficiency |
Reversed | 1 |
HGVS | NC_000021.8:g.46330696A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010070.1, |