rs397509402
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397509402(C;C) |
Make rs397509402(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 13928132 |
Gene | ERCC4 |
is a | snp |
is | mentioned by |
dbSNP | rs397509402 |
dbSNP (classic) | rs397509402 |
ClinGen | rs397509402 |
ebi | rs397509402 |
HLI | rs397509402 |
Exac | rs397509402 |
Gnomad | rs397509402 |
Varsome | rs397509402 |
LitVar | rs397509402 |
Map | rs397509402 |
PheGenI | rs397509402 |
Biobank | rs397509402 |
1000 genomes | rs397509402 |
hgdp | rs397509402 |
ensembl | rs397509402 |
geneview | rs397509402 |
scholar | rs397509402 |
rs397509402 | |
pharmgkb | rs397509402 |
gwascentral | rs397509402 |
openSNP | rs397509402 |
23andMe | rs397509402 |
SNPshot | rs397509402 |
SNPdbe | rs397509402 |
MSV3d | rs397509402 |
GWAS Ctlg | rs397509402 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397509402(C;C) |
Alt | rs397509402(C;C) |
Reference | Rs397509402(T;T) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | ERCC4 |
CLNDBN | Fanconi anemia, complementation group Q |
Reversed | 0 |
HGVS | NC_000016.9:g.14021989T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000049247.28, |