rs121917785
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121917785(G;G) |
Make rs121917785(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 95107112 |
Gene | C9orf3, FANCC, LOC107987102 |
is a | snp |
is | mentioned by |
dbSNP | rs121917785 |
dbSNP (classic) | rs121917785 |
ClinGen | rs121917785 |
ebi | rs121917785 |
HLI | rs121917785 |
Exac | rs121917785 |
Gnomad | rs121917785 |
Varsome | rs121917785 |
LitVar | rs121917785 |
Map | rs121917785 |
PheGenI | rs121917785 |
Biobank | rs121917785 |
1000 genomes | rs121917785 |
hgdp | rs121917785 |
ensembl | rs121917785 |
geneview | rs121917785 |
scholar | rs121917785 |
rs121917785 | |
pharmgkb | rs121917785 |
gwascentral | rs121917785 |
openSNP | rs121917785 |
23andMe | rs121917785 |
SNPshot | rs121917785 |
SNPdbe | rs121917785 |
MSV3d | rs121917785 |
GWAS Ctlg | rs121917785 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917785(G;G) |
Alt | rs121917785(G;G) |
Reference | Rs121917785(T;T) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCC |
CLNDBN | Fanconi anemia, complementation group C |
Reversed | 1 |
HGVS | NC_000009.11:g.97869394A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012830.3, |