rs121434322
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434322(C;T) |
Make rs121434322(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 59843998 |
Gene | GIF |
is a | snp |
is | mentioned by |
dbSNP | rs121434322 |
dbSNP (classic) | rs121434322 |
ClinGen | rs121434322 |
ebi | rs121434322 |
HLI | rs121434322 |
Exac | rs121434322 |
Gnomad | rs121434322 |
Varsome | rs121434322 |
LitVar | rs121434322 |
Map | rs121434322 |
PheGenI | rs121434322 |
Biobank | rs121434322 |
1000 genomes | rs121434322 |
hgdp | rs121434322 |
ensembl | rs121434322 |
geneview | rs121434322 |
scholar | rs121434322 |
rs121434322 | |
pharmgkb | rs121434322 |
gwascentral | rs121434322 |
openSNP | rs121434322 |
23andMe | rs121434322 |
SNPshot | rs121434322 |
SNPdbe | rs121434322 |
MSV3d | rs121434322 |
GWAS Ctlg | rs121434322 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434322(A;A) rs121434322(T;T) |
Alt | rs121434322(A;A) rs121434322(T;T) |
Reference | Rs121434322(C;C) |
Significance | Pathogenic |
Disease | Intrinsic factor deficiency |
Variation | info |
Gene | GIF |
CLNDBN | Intrinsic factor deficiency |
Reversed | 1 |
HGVS | NC_000011.9:g.59611471G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001816.2, |