rs730881731
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730881731(C;T) |
Make rs730881731(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 95240675 |
Gene | FANCC |
is a | snp |
is | mentioned by |
dbSNP | rs730881731 |
dbSNP (classic) | rs730881731 |
ClinGen | rs730881731 |
ebi | rs730881731 |
HLI | rs730881731 |
Exac | rs730881731 |
Gnomad | rs730881731 |
Varsome | rs730881731 |
LitVar | rs730881731 |
Map | rs730881731 |
PheGenI | rs730881731 |
Biobank | rs730881731 |
1000 genomes | rs730881731 |
hgdp | rs730881731 |
ensembl | rs730881731 |
geneview | rs730881731 |
scholar | rs730881731 |
rs730881731 | |
pharmgkb | rs730881731 |
gwascentral | rs730881731 |
openSNP | rs730881731 |
23andMe | rs730881731 |
SNPshot | rs730881731 |
SNPdbe | rs730881731 |
MSV3d | rs730881731 |
GWAS Ctlg | rs730881731 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881731(T;T) |
Alt | rs730881731(T;T) |
Reference | Rs730881731(C;C) |
Significance | Pathogenic |
Disease | not provided Fanconi anemia |
Variation | info |
Gene | FANCC |
CLNDBN | not provided Fanconi anemia |
Reversed | 1 |
HGVS | NC_000009.11:g.98002957G>A |
CLNSRC | |
CLNACC | RCV000160499.1, RCV000472455.1, |