rs587777699
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCCCCGCAGCCCCCGTCTA;CCCCCGCAGCCCCCGTCTA) | 0 | common in clinvar |
Make rs587777699(-;-) |
Make rs587777699(-;CCCCCGCAGCCCCCGTCTA) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 42401822 |
Gene | LIPE, LIPE-AS1, LOC101930071 |
is a | snp |
is | mentioned by |
dbSNP | rs587777699 |
dbSNP (classic) | rs587777699 |
ClinGen | rs587777699 |
ebi | rs587777699 |
HLI | rs587777699 |
Exac | rs587777699 |
Gnomad | rs587777699 |
Varsome | rs587777699 |
LitVar | rs587777699 |
Map | rs587777699 |
PheGenI | rs587777699 |
Biobank | rs587777699 |
1000 genomes | rs587777699 |
hgdp | rs587777699 |
ensembl | rs587777699 |
geneview | rs587777699 |
scholar | rs587777699 |
rs587777699 | |
pharmgkb | rs587777699 |
gwascentral | rs587777699 |
openSNP | rs587777699 |
23andMe | rs587777699 |
SNPshot | rs587777699 |
SNPdbe | rs587777699 |
MSV3d | rs587777699 |
GWAS Ctlg | rs587777699 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777699(-;-) |
Alt | rs587777699(-;-) |
Reference | Rs587777699(CCCCCGCAGCCCCCGTCTA;CCCCCGCAGCCCCCGTCTA) |
Significance | Pathogenic |
Disease | Familial partial lipodystrophy 6 |
Variation | info |
Gene | LIPE-AS1 LOC101930071 LIPE |
CLNDBN | Familial partial lipodystrophy 6 |
Reversed | 0 |
HGVS | NC_000019.9:g.42905974_42905992del19 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144035.3, |