rs1053878
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(T;T) |
Make rs1053878(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 133256264 |
Gene | ABO |
is a | snp |
is | mentioned by |
dbSNP | rs1053878 |
dbSNP (classic) | rs1053878 |
ClinGen | rs1053878 |
ebi | rs1053878 |
HLI | rs1053878 |
Exac | rs1053878 |
Gnomad | rs1053878 |
Varsome | rs1053878 |
LitVar | rs1053878 |
Map | rs1053878 |
PheGenI | rs1053878 |
Biobank | rs1053878 |
1000 genomes | rs1053878 |
hgdp | rs1053878 |
ensembl | rs1053878 |
geneview | rs1053878 |
scholar | rs1053878 |
rs1053878 | |
pharmgkb | rs1053878 |
gwascentral | rs1053878 |
openSNP | rs1053878 |
23andMe | rs1053878 |
SNPshot | rs1053878 |
SNPdbe | rs1053878 |
MSV3d | rs1053878 |
GWAS Ctlg | rs1053878 |
GMAF | 0.1428 |
Max Magnitude | 0 |
Influences ABO blood group; "cis-AB phenotype" is associated with rs1053878(T)
[PMID 19169360] Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity.
ClinVar | |
---|---|
Risk | Rs1053878(T;T) |
Alt | Rs1053878(T;T) |
Reference | Rs1053878(C;C) |
Significance | Other |
Disease | ABO blood group system |
Variation | info |
Gene | ABO |
CLNDBN | ABO blood group system |
Reversed | 1 |
HGVS | NC_000009.11:g.136131651G>A |
CLNSRC | OMIM Allelic Variant dbRBC - Blood Group Antigen Gene Mutation Database |
CLNACC | RCV000019312.3, |