rs375656231
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs375656231(A;T) |
Make rs375656231(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 89293963 |
Gene | FANCI |
is a | snp |
is | mentioned by |
dbSNP | rs375656231 |
dbSNP (classic) | rs375656231 |
ClinGen | rs375656231 |
ebi | rs375656231 |
HLI | rs375656231 |
Exac | rs375656231 |
Gnomad | rs375656231 |
Varsome | rs375656231 |
LitVar | rs375656231 |
Map | rs375656231 |
PheGenI | rs375656231 |
Biobank | rs375656231 |
1000 genomes | rs375656231 |
hgdp | rs375656231 |
ensembl | rs375656231 |
geneview | rs375656231 |
scholar | rs375656231 |
rs375656231 | |
pharmgkb | rs375656231 |
gwascentral | rs375656231 |
openSNP | rs375656231 |
23andMe | rs375656231 |
SNPshot | rs375656231 |
SNPdbe | rs375656231 |
MSV3d | rs375656231 |
GWAS Ctlg | rs375656231 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375656231(T;T) |
Alt | rs375656231(T;T) |
Reference | Rs375656231(A;A) |
Significance | Probable-Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCI |
CLNDBN | Fanconi anemia, complementation group I |
Reversed | 0 |
HGVS | NC_000015.9:g.89837194A>T |
CLNSRC | |
CLNACC | RCV000190643.1, |