rs1057516919
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs1057516919(-;-) |
Make rs1057516919(-;TG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 95114679 |
Gene | C9orf3, FANCC |
is a | snp |
is | mentioned by |
dbSNP | rs1057516919 |
dbSNP (classic) | rs1057516919 |
ClinGen | rs1057516919 |
ebi | rs1057516919 |
HLI | rs1057516919 |
Exac | rs1057516919 |
Gnomad | rs1057516919 |
Varsome | rs1057516919 |
LitVar | rs1057516919 |
Map | rs1057516919 |
PheGenI | rs1057516919 |
Biobank | rs1057516919 |
1000 genomes | rs1057516919 |
hgdp | rs1057516919 |
ensembl | rs1057516919 |
geneview | rs1057516919 |
scholar | rs1057516919 |
rs1057516919 | |
pharmgkb | rs1057516919 |
gwascentral | rs1057516919 |
openSNP | rs1057516919 |
23andMe | rs1057516919 |
SNPshot | rs1057516919 |
SNPdbe | rs1057516919 |
MSV3d | rs1057516919 |
GWAS Ctlg | rs1057516919 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516919(-;-) |
Alt | rs1057516919(-;-) |
Reference | Rs1057516919(TG;TG) |
Significance | Probable-Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCC |
CLNDBN | Fanconi anemia, complementation group C |
Reversed | 1 |
HGVS | NC_000009.11:g.97876961_97876962delCA |
CLNSRC | |
CLNACC | RCV000410408.1, |