rs121918163
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918163(A;A) |
Make rs121918163(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 89315319 |
Gene | FANCI |
is a | snp |
is | mentioned by |
dbSNP | rs121918163 |
dbSNP (classic) | rs121918163 |
ClinGen | rs121918163 |
ebi | rs121918163 |
HLI | rs121918163 |
Exac | rs121918163 |
Gnomad | rs121918163 |
Varsome | rs121918163 |
LitVar | rs121918163 |
Map | rs121918163 |
PheGenI | rs121918163 |
Biobank | rs121918163 |
1000 genomes | rs121918163 |
hgdp | rs121918163 |
ensembl | rs121918163 |
geneview | rs121918163 |
scholar | rs121918163 |
rs121918163 | |
pharmgkb | rs121918163 |
gwascentral | rs121918163 |
openSNP | rs121918163 |
23andMe | rs121918163 |
SNPshot | rs121918163 |
SNPdbe | rs121918163 |
MSV3d | rs121918163 |
GWAS Ctlg | rs121918163 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918163(A;A) |
Alt | rs121918163(A;A) |
Reference | Rs121918163(G;G) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCI |
CLNDBN | Fanconi anemia, complementation group I |
Reversed | 0 |
HGVS | NC_000015.9:g.89858550G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001023.5, |