rs387907372
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GCC;GCC) | 0 | common in clinvar |
Make rs387907372(CTT;CTT) |
Make rs387907372(CTT;GCC) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 121520160 |
Gene | FGFR2 |
is a | snp |
is | mentioned by |
dbSNP | rs387907372 |
dbSNP (classic) | rs387907372 |
ClinGen | rs387907372 |
ebi | rs387907372 |
HLI | rs387907372 |
Exac | rs387907372 |
Gnomad | rs387907372 |
Varsome | rs387907372 |
LitVar | rs387907372 |
Map | rs387907372 |
PheGenI | rs387907372 |
Biobank | rs387907372 |
1000 genomes | rs387907372 |
hgdp | rs387907372 |
ensembl | rs387907372 |
geneview | rs387907372 |
scholar | rs387907372 |
rs387907372 | |
pharmgkb | rs387907372 |
gwascentral | rs387907372 |
openSNP | rs387907372 |
23andMe | rs387907372 |
SNPshot | rs387907372 |
SNPdbe | rs387907372 |
MSV3d | rs387907372 |
GWAS Ctlg | rs387907372 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907372(CTT;CTT) |
Alt | rs387907372(CTT;CTT) |
Reference | Rs387907372(GCC;GCC) |
Significance | Pathogenic |
Disease | Acrocephalosyndactyly type I |
Variation | info |
Gene | FGFR2 |
CLNDBN | Acrocephalosyndactyly type I |
Reversed | 1 |
HGVS | NC_000010.10:g.123279674_123279676delGGCinsAAG |
CLNSRC | ClinVar |
CLNACC | RCV000049281.1, |