rs587777007
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
(AGG;AGG) | 0 | common in clinvar |
(CT;CT) | 0 | common in clinvar |
Make rs587777007(-;-) |
Make rs587777007(-;CT) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 42249220 |
Gene | ERF |
is a | snp |
is | mentioned by |
dbSNP | rs587777007 |
dbSNP (classic) | rs587777007 |
ClinGen | rs587777007 |
ebi | rs587777007 |
HLI | rs587777007 |
Exac | rs587777007 |
Gnomad | rs587777007 |
Varsome | rs587777007 |
LitVar | rs587777007 |
Map | rs587777007 |
PheGenI | rs587777007 |
Biobank | rs587777007 |
1000 genomes | rs587777007 |
hgdp | rs587777007 |
ensembl | rs587777007 |
geneview | rs587777007 |
scholar | rs587777007 |
rs587777007 | |
pharmgkb | rs587777007 |
gwascentral | rs587777007 |
openSNP | rs587777007 |
23andMe | rs587777007 |
SNPshot | rs587777007 |
SNPdbe | rs587777007 |
MSV3d | rs587777007 |
GWAS Ctlg | rs587777007 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777007(CT;CT) rs587777007(-;-) |
Alt | Rs587777007(CT;CT) rs587777007(-;-) |
Reference | Rs587777007(AG;AG) |
Significance | Pathogenic |
Disease | Craniosynostosis 4 |
Variation | info |
Gene | ERF |
CLNDBN | Craniosynostosis 4 |
Reversed | 1 |
HGVS | NC_000019.9:g.42753372_42753373delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000049337.4, |