rs1057517655
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057517655(C;T) |
Make rs1057517655(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 136673913 |
Gene | AGPAT2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517655 |
dbSNP (classic) | rs1057517655 |
ClinGen | rs1057517655 |
ebi | rs1057517655 |
HLI | rs1057517655 |
Exac | rs1057517655 |
Gnomad | rs1057517655 |
Varsome | rs1057517655 |
LitVar | rs1057517655 |
Map | rs1057517655 |
PheGenI | rs1057517655 |
Biobank | rs1057517655 |
1000 genomes | rs1057517655 |
hgdp | rs1057517655 |
ensembl | rs1057517655 |
geneview | rs1057517655 |
scholar | rs1057517655 |
rs1057517655 | |
pharmgkb | rs1057517655 |
gwascentral | rs1057517655 |
openSNP | rs1057517655 |
23andMe | rs1057517655 |
SNPshot | rs1057517655 |
SNPdbe | rs1057517655 |
MSV3d | rs1057517655 |
GWAS Ctlg | rs1057517655 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517655(T;T) |
Alt | rs1057517655(T;T) |
Reference | Rs1057517655(C;C) |
Significance | Pathogenic |
Disease | Congenital generalized lipodystrophy type 1 |
Variation | info |
Gene | AGPAT2 |
CLNDBN | Congenital generalized lipodystrophy type 1 |
Reversed | 1 |
HGVS | NC_000009.11:g.139568365G>A |
CLNSRC | |
CLNACC | RCV000412578.1, |