rs397507560
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTGGATCCGT;CTGGATCCGT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TGGATCCGTC;TGGATCCGTC) | 0 | common in clinvar |
Make rs397507560(-;-) |
Make rs397507560(-;CTGGATCCGT) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 35074174 |
Gene | FANCG, VCP |
is a | snp |
is | mentioned by |
dbSNP | rs397507560 |
dbSNP (classic) | rs397507560 |
ClinGen | rs397507560 |
ebi | rs397507560 |
HLI | rs397507560 |
Exac | rs397507560 |
Gnomad | rs397507560 |
Varsome | rs397507560 |
LitVar | rs397507560 |
Map | rs397507560 |
PheGenI | rs397507560 |
Biobank | rs397507560 |
1000 genomes | rs397507560 |
hgdp | rs397507560 |
ensembl | rs397507560 |
geneview | rs397507560 |
scholar | rs397507560 |
rs397507560 | |
pharmgkb | rs397507560 |
gwascentral | rs397507560 |
openSNP | rs397507560 |
23andMe | rs397507560 |
SNPshot | rs397507560 |
SNPdbe | rs397507560 |
MSV3d | rs397507560 |
GWAS Ctlg | rs397507560 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs397507560(TGGATCCGTC;TGGATCCGTC) rs397507560(-;-) |
Alt | Rs397507560(TGGATCCGTC;TGGATCCGTC) rs397507560(-;-) |
Reference | Rs397507560(CTGGATCCGT;CTGGATCCGT) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | VCP FANCG |
CLNDBN | Fanconi anemia, complementation group G |
Reversed | 1 |
HGVS | NC_000009.11:g.35074171_35074180delACGGATCCAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007110.3, |