rs574034197
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs574034197(C;C) |
Make rs574034197(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 89746848 |
Gene | FANCA |
is a | snp |
is | mentioned by |
dbSNP | rs574034197 |
dbSNP (classic) | rs574034197 |
ClinGen | rs574034197 |
ebi | rs574034197 |
HLI | rs574034197 |
Exac | rs574034197 |
Gnomad | rs574034197 |
Varsome | rs574034197 |
LitVar | rs574034197 |
Map | rs574034197 |
PheGenI | rs574034197 |
Biobank | rs574034197 |
1000 genomes | rs574034197 |
hgdp | rs574034197 |
ensembl | rs574034197 |
geneview | rs574034197 |
scholar | rs574034197 |
rs574034197 | |
pharmgkb | rs574034197 |
gwascentral | rs574034197 |
openSNP | rs574034197 |
23andMe | rs574034197 |
SNPshot | rs574034197 |
SNPdbe | rs574034197 |
MSV3d | rs574034197 |
GWAS Ctlg | rs574034197 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs574034197(C;C) rs574034197(G;G) |
Alt | rs574034197(C;C) rs574034197(G;G) |
Reference | Rs574034197(T;T) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCA |
CLNDBN | Fanconi anemia |
Reversed | 0 |
HGVS | NC_000016.9:g.89813256T>C |
CLNSRC | |
CLNACC | RCV000230300.2, |