rs1060501900
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1060501900(A;A) |
Make rs1060501900(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 89314671 |
Gene | FANCI |
is a | snp |
is | mentioned by |
dbSNP | rs1060501900 |
dbSNP (classic) | rs1060501900 |
ClinGen | rs1060501900 |
ebi | rs1060501900 |
HLI | rs1060501900 |
Exac | rs1060501900 |
Gnomad | rs1060501900 |
Varsome | rs1060501900 |
LitVar | rs1060501900 |
Map | rs1060501900 |
PheGenI | rs1060501900 |
Biobank | rs1060501900 |
1000 genomes | rs1060501900 |
hgdp | rs1060501900 |
ensembl | rs1060501900 |
geneview | rs1060501900 |
scholar | rs1060501900 |
rs1060501900 | |
pharmgkb | rs1060501900 |
gwascentral | rs1060501900 |
openSNP | rs1060501900 |
23andMe | rs1060501900 |
SNPshot | rs1060501900 |
SNPdbe | rs1060501900 |
MSV3d | rs1060501900 |
GWAS Ctlg | rs1060501900 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501900(A;A) |
Alt | rs1060501900(A;A) |
Reference | Rs1060501900(T;T) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCI |
CLNDBN | Fanconi anemia |
Reversed | 0 |
HGVS | NC_000015.9:g.89857902T>A |
CLNSRC | |
CLNACC | RCV000467025.1, |