rs1057517553
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TAGCCCA;TAGCCCA) | 0 | common in clinvar |
Make rs1057517553(-;-) |
Make rs1057517553(-;GCCCATA) |
Make rs1057517553(GCCCATA;GCCCATA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 112838607 |
Gene | APC |
is a | snp |
is | mentioned by |
dbSNP | rs1057517553 |
dbSNP (classic) | rs1057517553 |
ClinGen | rs1057517553 |
ebi | rs1057517553 |
HLI | rs1057517553 |
Exac | rs1057517553 |
Gnomad | rs1057517553 |
Varsome | rs1057517553 |
LitVar | rs1057517553 |
Map | rs1057517553 |
PheGenI | rs1057517553 |
Biobank | rs1057517553 |
1000 genomes | rs1057517553 |
hgdp | rs1057517553 |
ensembl | rs1057517553 |
geneview | rs1057517553 |
scholar | rs1057517553 |
rs1057517553 | |
pharmgkb | rs1057517553 |
gwascentral | rs1057517553 |
openSNP | rs1057517553 |
23andMe | rs1057517553 |
SNPshot | rs1057517553 |
SNPdbe | rs1057517553 |
MSV3d | rs1057517553 |
GWAS Ctlg | rs1057517553 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517553(-;-) |
Alt | rs1057517553(-;-) |
Reference | Rs1057517553(TAGCCCA;TAGCCCA) |
Significance | Probable-Pathogenic |
Disease | Familial adenomatous polyposis 1 |
Variation | info |
Gene | APC |
CLNDBN | Familial adenomatous polyposis 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.112174304_112174310delGCCCATA |
CLNSRC | |
CLNACC | RCV000410538.1, |