rs1057516430
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057516430(C;T) |
Make rs1057516430(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 89811060 |
Gene | FANCA |
is a | snp |
is | mentioned by |
dbSNP | rs1057516430 |
dbSNP (classic) | rs1057516430 |
ClinGen | rs1057516430 |
ebi | rs1057516430 |
HLI | rs1057516430 |
Exac | rs1057516430 |
Gnomad | rs1057516430 |
Varsome | rs1057516430 |
LitVar | rs1057516430 |
Map | rs1057516430 |
PheGenI | rs1057516430 |
Biobank | rs1057516430 |
1000 genomes | rs1057516430 |
hgdp | rs1057516430 |
ensembl | rs1057516430 |
geneview | rs1057516430 |
scholar | rs1057516430 |
rs1057516430 | |
pharmgkb | rs1057516430 |
gwascentral | rs1057516430 |
openSNP | rs1057516430 |
23andMe | rs1057516430 |
SNPshot | rs1057516430 |
SNPdbe | rs1057516430 |
MSV3d | rs1057516430 |
GWAS Ctlg | rs1057516430 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516430(T;T) |
Alt | rs1057516430(T;T) |
Reference | Rs1057516430(C;C) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCA |
CLNDBN | Fanconi anemia, complementation group A |
Reversed | 1 |
HGVS | NC_000016.9:g.89877468G>A |
CLNSRC | |
CLNACC | RCV000409455.1, |