rs121913478
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121913478(A;G) |
Make rs121913478(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 121515280 |
Gene | FGFR2 |
is a | snp |
is | mentioned by |
dbSNP | rs121913478 |
dbSNP (classic) | rs121913478 |
ClinGen | rs121913478 |
ebi | rs121913478 |
HLI | rs121913478 |
Exac | rs121913478 |
Gnomad | rs121913478 |
Varsome | rs121913478 |
LitVar | rs121913478 |
Map | rs121913478 |
PheGenI | rs121913478 |
Biobank | rs121913478 |
1000 genomes | rs121913478 |
hgdp | rs121913478 |
ensembl | rs121913478 |
geneview | rs121913478 |
scholar | rs121913478 |
rs121913478 | |
pharmgkb | rs121913478 |
gwascentral | rs121913478 |
openSNP | rs121913478 |
23andMe | rs121913478 |
SNPshot | rs121913478 |
SNPdbe | rs121913478 |
MSV3d | rs121913478 |
GWAS Ctlg | rs121913478 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913478(G;G) |
Alt | rs121913478(G;G) |
Reference | Rs121913478(A;A) |
Significance | Pathogenic |
Disease | Cutis Gyrata syndrome of Beare and Stevenson Endometrial carcinoma not provided Endometrial neoplasm |
Variation | info |
Gene | FGFR2 |
CLNDBN | Cutis Gyrata syndrome of Beare and Stevenson Endometrial carcinoma not provided Endometrial neoplasm |
Reversed | 1 |
HGVS | NC_000010.10:g.123274794T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014198.18, RCV000014199.5, RCV000224124.2, RCV000441051.1, |