rs377294947
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs377294947(C;T) |
Make rs377294947(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 95249227 |
Gene | FANCC |
is a | snp |
is | mentioned by |
dbSNP | rs377294947 |
dbSNP (classic) | rs377294947 |
ClinGen | rs377294947 |
ebi | rs377294947 |
HLI | rs377294947 |
Exac | rs377294947 |
Gnomad | rs377294947 |
Varsome | rs377294947 |
LitVar | rs377294947 |
Map | rs377294947 |
PheGenI | rs377294947 |
Biobank | rs377294947 |
1000 genomes | rs377294947 |
hgdp | rs377294947 |
ensembl | rs377294947 |
geneview | rs377294947 |
scholar | rs377294947 |
rs377294947 | |
pharmgkb | rs377294947 |
gwascentral | rs377294947 |
openSNP | rs377294947 |
23andMe | rs377294947 |
SNPshot | rs377294947 |
SNPdbe | rs377294947 |
MSV3d | rs377294947 |
GWAS Ctlg | rs377294947 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377294947(T;T) |
Alt | rs377294947(T;T) |
Reference | Rs377294947(C;C) |
Significance | Probable-Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCC |
CLNDBN | Fanconi anemia, complementation group C |
Reversed | 0 |
HGVS | NC_000009.11:g.98011509C>T |
CLNSRC | |
CLNACC | RCV000169293.1, |