rs587777580
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TA;TA) | 0 | common in clinvar |
Make rs587777580(-;-) |
Make rs587777580(-;AT) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 80266984 |
Gene | FGF5 |
is a | snp |
is | mentioned by |
dbSNP | rs587777580 |
dbSNP (classic) | rs587777580 |
ClinGen | rs587777580 |
ebi | rs587777580 |
HLI | rs587777580 |
Exac | rs587777580 |
Gnomad | rs587777580 |
Varsome | rs587777580 |
LitVar | rs587777580 |
Map | rs587777580 |
PheGenI | rs587777580 |
Biobank | rs587777580 |
1000 genomes | rs587777580 |
hgdp | rs587777580 |
ensembl | rs587777580 |
geneview | rs587777580 |
scholar | rs587777580 |
rs587777580 | |
pharmgkb | rs587777580 |
gwascentral | rs587777580 |
openSNP | rs587777580 |
23andMe | rs587777580 |
SNPshot | rs587777580 |
SNPdbe | rs587777580 |
MSV3d | rs587777580 |
GWAS Ctlg | rs587777580 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777580(-;-) Rs587777580(TA;TA) |
Alt | rs587777580(-;-) Rs587777580(TA;TA) |
Reference | Rs587777580(AT;AT) |
Significance | Pathogenic |
Disease | Trichomegaly |
Variation | info |
Gene | FGF5 |
CLNDBN | Trichomegaly |
Reversed | 0 |
HGVS | NC_000004.11:g.81188138_81188139delAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000129917.2, |