rs770128720
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCTTA;TCTTA) | 0 | common in clinvar |
Make rs770128720(-;-) |
Make rs770128720(-;TCTTA) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 13 |
Position | 108209514 |
Gene | LIG4 |
is a | snp |
is | mentioned by |
dbSNP | rs770128720 |
dbSNP (classic) | rs770128720 |
ClinGen | rs770128720 |
ebi | rs770128720 |
HLI | rs770128720 |
Exac | rs770128720 |
Gnomad | rs770128720 |
Varsome | rs770128720 |
LitVar | rs770128720 |
Map | rs770128720 |
PheGenI | rs770128720 |
Biobank | rs770128720 |
1000 genomes | rs770128720 |
hgdp | rs770128720 |
ensembl | rs770128720 |
geneview | rs770128720 |
scholar | rs770128720 |
rs770128720 | |
pharmgkb | rs770128720 |
gwascentral | rs770128720 |
openSNP | rs770128720 |
23andMe | rs770128720 |
SNPshot | rs770128720 |
SNPdbe | rs770128720 |
MSV3d | rs770128720 |
GWAS Ctlg | rs770128720 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770128720(-;-) |
Alt | rs770128720(-;-) |
Reference | Rs770128720(TCTTA;TCTTA) |
Significance | Pathogenic |
Disease | Lig4 syndrome |
Variation | info |
Gene | LIG4 |
CLNDBN | Lig4 syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.108861862_108861866delTCTTA |
CLNSRC | |
CLNACC | RCV000328813.1, |