rs587777239
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587777239(-;GTCCCGCATGGCGCTGTACTC) |
Make rs587777239(GTCCCGCATGGCGCTGTACTC;GTCCCGCATGGCGCTGTACTC) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 533869 |
Gene | HRAS, LRRC56 |
is a | snp |
is | mentioned by |
dbSNP | rs587777239 |
dbSNP (classic) | rs587777239 |
ClinGen | rs587777239 |
ebi | rs587777239 |
HLI | rs587777239 |
Exac | rs587777239 |
Gnomad | rs587777239 |
Varsome | rs587777239 |
LitVar | rs587777239 |
Map | rs587777239 |
PheGenI | rs587777239 |
Biobank | rs587777239 |
1000 genomes | rs587777239 |
hgdp | rs587777239 |
ensembl | rs587777239 |
geneview | rs587777239 |
scholar | rs587777239 |
rs587777239 | |
pharmgkb | rs587777239 |
gwascentral | rs587777239 |
openSNP | rs587777239 |
23andMe | rs587777239 |
SNPshot | rs587777239 |
SNPdbe | rs587777239 |
MSV3d | rs587777239 |
GWAS Ctlg | rs587777239 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777239(GTCCCGCATGGCGCTGTACTC;GTCCCGCATGGCGCTGTACTC) |
Alt | rs587777239(GTCCCGCATGGCGCTGTACTC;GTCCCGCATGGCGCTGTACTC) |
Reference | Rs587777239(-;-) |
Significance | Pathogenic |
Disease | Costello syndrome |
Variation | info |
Gene | HRAS |
CLNDBN | Costello syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.533849_533869dup21 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000106320.3, |