rs587776663
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAC;AAC) | 0 | common in clinvar |
(AACC;AACC) | 0 | common in clinvar |
(GTT;GTT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587776663(-;-) |
Make rs587776663(-;GTT) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 108209969 |
Gene | LIG4 |
is a | snp |
is | mentioned by |
dbSNP | rs587776663 |
dbSNP (classic) | rs587776663 |
ClinGen | rs587776663 |
ebi | rs587776663 |
HLI | rs587776663 |
Exac | rs587776663 |
Gnomad | rs587776663 |
Varsome | rs587776663 |
LitVar | rs587776663 |
Map | rs587776663 |
PheGenI | rs587776663 |
Biobank | rs587776663 |
1000 genomes | rs587776663 |
hgdp | rs587776663 |
ensembl | rs587776663 |
geneview | rs587776663 |
scholar | rs587776663 |
rs587776663 | |
pharmgkb | rs587776663 |
gwascentral | rs587776663 |
openSNP | rs587776663 |
23andMe | rs587776663 |
SNPshot | rs587776663 |
SNPdbe | rs587776663 |
MSV3d | rs587776663 |
GWAS Ctlg | rs587776663 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776663(GTT;GTT) rs587776663(-;-) |
Alt | Rs587776663(GTT;GTT) rs587776663(-;-) |
Reference | Rs587776663(AAC;AAC) |
Significance | Pathogenic |
Disease | Lig4 syndrome |
Variation | info |
Gene | LIG4 |
CLNDBN | Lig4 syndrome |
Reversed | 1 |
HGVS | NC_000013.10:g.108862317_108862319delGTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008117.3, |