rs587776540
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CAAAGTGC;CAAAGTGC) | 0 | common in clinvar |
(CAAAGTGCA;CAAAGTGCA) | 0 | common in clinvar |
(GCACTTTG;GCACTTTG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587776540(-;-) |
Make rs587776540(-;GCACTTTG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 118110512 |
Gene | EXT1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776540 |
dbSNP (classic) | rs587776540 |
ClinGen | rs587776540 |
ebi | rs587776540 |
HLI | rs587776540 |
Exac | rs587776540 |
Gnomad | rs587776540 |
Varsome | rs587776540 |
LitVar | rs587776540 |
Map | rs587776540 |
PheGenI | rs587776540 |
Biobank | rs587776540 |
1000 genomes | rs587776540 |
hgdp | rs587776540 |
ensembl | rs587776540 |
geneview | rs587776540 |
scholar | rs587776540 |
rs587776540 | |
pharmgkb | rs587776540 |
gwascentral | rs587776540 |
openSNP | rs587776540 |
23andMe | rs587776540 |
SNPshot | rs587776540 |
SNPdbe | rs587776540 |
MSV3d | rs587776540 |
GWAS Ctlg | rs587776540 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776540(GCACTTTG;GCACTTTG) rs587776540(-;-) |
Alt | Rs587776540(GCACTTTG;GCACTTTG) rs587776540(-;-) |
Reference | Rs587776540(CAAAGTGC;CAAAGTGC) |
Significance | Pathogenic |
Disease | Chondrosarcoma |
Variation | info |
Gene | EXT1 |
CLNDBN | Chondrosarcoma |
Reversed | 1 |
HGVS | NC_000008.10:g.119122751_119122758delGCACTTTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002603.4, |