rs587776804
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACCCATGTATGAAGT;ACCCATGTATGAAGT) | 0 | common in clinvar |
Make rs587776804(-;-) |
Make rs587776804(-;CCATGTATGAAGTAC) |
Make rs587776804(CCATGTATGAAGTAC;CCATGTATGAAGTAC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 54727420 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs587776804 |
dbSNP (classic) | rs587776804 |
ClinGen | rs587776804 |
ebi | rs587776804 |
HLI | rs587776804 |
Exac | rs587776804 |
Gnomad | rs587776804 |
Varsome | rs587776804 |
LitVar | rs587776804 |
Map | rs587776804 |
PheGenI | rs587776804 |
Biobank | rs587776804 |
1000 genomes | rs587776804 |
hgdp | rs587776804 |
ensembl | rs587776804 |
geneview | rs587776804 |
scholar | rs587776804 |
rs587776804 | |
pharmgkb | rs587776804 |
gwascentral | rs587776804 |
openSNP | rs587776804 |
23andMe | rs587776804 |
SNPshot | rs587776804 |
SNPdbe | rs587776804 |
MSV3d | rs587776804 |
GWAS Ctlg | rs587776804 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776804(-;-) |
Alt | rs587776804(-;-) |
Reference | Rs587776804(ACCCATGTATGAAGT;ACCCATGTATGAAGT) |
Significance | Pathogenic |
Disease | Gastrointestinal stromal tumor |
Variation | info |
Gene | KIT |
CLNDBN | Gastrointestinal stromal tumor |
Reversed | 0 |
HGVS | NC_000004.11:g.55593586_55593600delCCATGTATGAAGTAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014868.4, |