rs587777726
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587777726(A;C) |
Make rs587777726(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 125446297 |
Gene | FAT4 |
is a | snp |
is | mentioned by |
dbSNP | rs587777726 |
dbSNP (classic) | rs587777726 |
ClinGen | rs587777726 |
ebi | rs587777726 |
HLI | rs587777726 |
Exac | rs587777726 |
Gnomad | rs587777726 |
Varsome | rs587777726 |
LitVar | rs587777726 |
Map | rs587777726 |
PheGenI | rs587777726 |
Biobank | rs587777726 |
1000 genomes | rs587777726 |
hgdp | rs587777726 |
ensembl | rs587777726 |
geneview | rs587777726 |
scholar | rs587777726 |
rs587777726 | |
pharmgkb | rs587777726 |
gwascentral | rs587777726 |
openSNP | rs587777726 |
23andMe | rs587777726 |
SNPshot | rs587777726 |
SNPdbe | rs587777726 |
MSV3d | rs587777726 |
GWAS Ctlg | rs587777726 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777726(C;C) rs587777726(G;G) |
Alt | rs587777726(C;C) rs587777726(G;G) |
Reference | Rs587777726(A;A) |
Significance | Pathogenic |
Disease | Hennekam lymphangiectasia-lymphedema syndrome 2 |
Variation | info |
Gene | FAT4 |
CLNDBN | Hennekam lymphangiectasia-lymphedema syndrome 2 |
Reversed | 0 |
HGVS | NC_000004.11:g.126367452A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144161.4, |