rs121917786
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121917786(A;A) |
Make rs121917786(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 10090315 |
Gene | FANCD2, FANCD2OS |
is a | snp |
is | mentioned by |
dbSNP | rs121917786 |
dbSNP (classic) | rs121917786 |
ClinGen | rs121917786 |
ebi | rs121917786 |
HLI | rs121917786 |
Exac | rs121917786 |
Gnomad | rs121917786 |
Varsome | rs121917786 |
LitVar | rs121917786 |
Map | rs121917786 |
PheGenI | rs121917786 |
Biobank | rs121917786 |
1000 genomes | rs121917786 |
hgdp | rs121917786 |
ensembl | rs121917786 |
geneview | rs121917786 |
scholar | rs121917786 |
rs121917786 | |
pharmgkb | rs121917786 |
gwascentral | rs121917786 |
openSNP | rs121917786 |
23andMe | rs121917786 |
SNPshot | rs121917786 |
SNPdbe | rs121917786 |
MSV3d | rs121917786 |
GWAS Ctlg | rs121917786 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917786(A;A) |
Alt | rs121917786(A;A) |
Reference | Rs121917786(G;G) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCD2 FANCD2OS |
CLNDBN | Fanconi anemia, complementation group D2 |
Reversed | 0 |
HGVS | NC_000003.11:g.10131999G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012818.2, |