rs104894418
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894418(C;T) |
Make rs104894418(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 108209531 |
Gene | LIG4 |
is a | snp |
is | mentioned by |
dbSNP | rs104894418 |
dbSNP (classic) | rs104894418 |
ClinGen | rs104894418 |
ebi | rs104894418 |
HLI | rs104894418 |
Exac | rs104894418 |
Gnomad | rs104894418 |
Varsome | rs104894418 |
LitVar | rs104894418 |
Map | rs104894418 |
PheGenI | rs104894418 |
Biobank | rs104894418 |
1000 genomes | rs104894418 |
hgdp | rs104894418 |
ensembl | rs104894418 |
geneview | rs104894418 |
scholar | rs104894418 |
rs104894418 | |
pharmgkb | rs104894418 |
gwascentral | rs104894418 |
openSNP | rs104894418 |
23andMe | rs104894418 |
SNPshot | rs104894418 |
SNPdbe | rs104894418 |
MSV3d | rs104894418 |
GWAS Ctlg | rs104894418 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894418(G;G) rs104894418(T;T) |
Alt | rs104894418(G;G) rs104894418(T;T) |
Reference | Rs104894418(C;C) |
Significance | Pathogenic |
Disease | Lig4 syndrome |
Variation | info |
Gene | LIG4 |
CLNDBN | Lig4 syndrome |
Reversed | 1 |
HGVS | NC_000013.10:g.108861879G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008111.2, |