rs121918503
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACG;ACG) | 0 | common in clinvar |
(GAC;GAC) | 0 | common/normal |
Make rs121918503(-;-) |
Make rs121918503(-;GAC) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 121520099 |
Gene | FGFR2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918503 |
dbSNP (classic) | rs121918503 |
ClinGen | rs121918503 |
ebi | rs121918503 |
HLI | rs121918503 |
Exac | rs121918503 |
Gnomad | rs121918503 |
Varsome | rs121918503 |
LitVar | rs121918503 |
Map | rs121918503 |
PheGenI | rs121918503 |
Biobank | rs121918503 |
1000 genomes | rs121918503 |
hgdp | rs121918503 |
ensembl | rs121918503 |
geneview | rs121918503 |
scholar | rs121918503 |
rs121918503 | |
pharmgkb | rs121918503 |
gwascentral | rs121918503 |
openSNP | rs121918503 |
23andMe | rs121918503 |
SNPshot | rs121918503 |
SNPdbe | rs121918503 |
MSV3d | rs121918503 |
GWAS Ctlg | rs121918503 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918503(-;-) |
Alt | rs121918503(-;-) |
Reference | Rs121918503(ACG;ACG) |
Significance | Pathogenic |
Disease | Pfeiffer syndrome |
Variation | info |
Gene | FGFR2 |
CLNDBN | Pfeiffer syndrome |
Reversed | 1 |
HGVS | NC_000010.10:g.123279613_123279615delGTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014211.18, |