rs1057516313
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057516313(-;-) |
Make rs1057516313(-;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 95114639 |
Gene | C9orf3, FANCC |
is a | snp |
is | mentioned by |
dbSNP | rs1057516313 |
dbSNP (classic) | rs1057516313 |
ClinGen | rs1057516313 |
ebi | rs1057516313 |
HLI | rs1057516313 |
Exac | rs1057516313 |
Gnomad | rs1057516313 |
Varsome | rs1057516313 |
LitVar | rs1057516313 |
Map | rs1057516313 |
PheGenI | rs1057516313 |
Biobank | rs1057516313 |
1000 genomes | rs1057516313 |
hgdp | rs1057516313 |
ensembl | rs1057516313 |
geneview | rs1057516313 |
scholar | rs1057516313 |
rs1057516313 | |
pharmgkb | rs1057516313 |
gwascentral | rs1057516313 |
openSNP | rs1057516313 |
23andMe | rs1057516313 |
SNPshot | rs1057516313 |
SNPdbe | rs1057516313 |
MSV3d | rs1057516313 |
GWAS Ctlg | rs1057516313 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516313(-;-) |
Alt | rs1057516313(-;-) |
Reference | Rs1057516313(C;C) |
Significance | Probable-Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCC |
CLNDBN | Fanconi anemia, complementation group C |
Reversed | 1 |
HGVS | NC_000009.11:g.97876921delG |
CLNSRC | |
CLNACC | RCV000412286.1, |