rs878855046
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGCTTCTGGTAGA;TGCTTCTGGTAGA) | 0 | common in clinvar |
Make rs878855046(-;-) |
Make rs878855046(-;TGCTTCTGGTAGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 58204163 |
Gene | FANCL |
is a | snp |
is | mentioned by |
dbSNP | rs878855046 |
dbSNP (classic) | rs878855046 |
ClinGen | rs878855046 |
ebi | rs878855046 |
HLI | rs878855046 |
Exac | rs878855046 |
Gnomad | rs878855046 |
Varsome | rs878855046 |
LitVar | rs878855046 |
Map | rs878855046 |
PheGenI | rs878855046 |
Biobank | rs878855046 |
1000 genomes | rs878855046 |
hgdp | rs878855046 |
ensembl | rs878855046 |
geneview | rs878855046 |
scholar | rs878855046 |
rs878855046 | |
pharmgkb | rs878855046 |
gwascentral | rs878855046 |
openSNP | rs878855046 |
23andMe | rs878855046 |
SNPshot | rs878855046 |
SNPdbe | rs878855046 |
MSV3d | rs878855046 |
GWAS Ctlg | rs878855046 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878855046(-;-) |
Alt | rs878855046(-;-) |
Reference | Rs878855046(TGCTTCTGGTAGA;TGCTTCTGGTAGA) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | FANCL |
CLNDBN | Fanconi anemia |
Reversed | 1 |
HGVS | NC_000002.11:g.58431298_58431310delTCTACCAGAAGCA |
CLNSRC | |
CLNACC | RCV000232991.1, |