rs104894100
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104894100(C;C) |
Make rs104894100(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 136673906 |
Gene | AGPAT2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894100 |
dbSNP (classic) | rs104894100 |
ClinGen | rs104894100 |
ebi | rs104894100 |
HLI | rs104894100 |
Exac | rs104894100 |
Gnomad | rs104894100 |
Varsome | rs104894100 |
LitVar | rs104894100 |
Map | rs104894100 |
PheGenI | rs104894100 |
Biobank | rs104894100 |
1000 genomes | rs104894100 |
hgdp | rs104894100 |
ensembl | rs104894100 |
geneview | rs104894100 |
scholar | rs104894100 |
rs104894100 | |
pharmgkb | rs104894100 |
gwascentral | rs104894100 |
openSNP | rs104894100 |
23andMe | rs104894100 |
SNPshot | rs104894100 |
SNPdbe | rs104894100 |
MSV3d | rs104894100 |
GWAS Ctlg | rs104894100 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894100(C;C) |
Alt | rs104894100(C;C) |
Reference | Rs104894100(T;T) |
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.139568358A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007006.3, |