rs121918508
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918508(A;A) |
Make rs121918508(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 121488035 |
Gene | FGFR2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918508 |
dbSNP (classic) | rs121918508 |
ClinGen | rs121918508 |
ebi | rs121918508 |
HLI | rs121918508 |
Exac | rs121918508 |
Gnomad | rs121918508 |
Varsome | rs121918508 |
LitVar | rs121918508 |
Map | rs121918508 |
PheGenI | rs121918508 |
Biobank | rs121918508 |
1000 genomes | rs121918508 |
hgdp | rs121918508 |
ensembl | rs121918508 |
geneview | rs121918508 |
scholar | rs121918508 |
rs121918508 | |
pharmgkb | rs121918508 |
gwascentral | rs121918508 |
openSNP | rs121918508 |
23andMe | rs121918508 |
SNPshot | rs121918508 |
SNPdbe | rs121918508 |
MSV3d | rs121918508 |
GWAS Ctlg | rs121918508 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918508(A;A) |
Alt | rs121918508(A;A) |
Reference | Rs121918508(G;G) |
Significance | Pathogenic |
Disease | Levy-Hollister syndrome |
Variation | info |
Gene | FGFR2 |
CLNDBN | Levy-Hollister syndrome |
Reversed | 1 |
HGVS | NC_000010.10:g.123247549C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014222.25, |