rs121909244
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909244(C;T) |
Make rs121909244(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 12434111 |
Gene | PPARG |
is a | snp |
is | mentioned by |
dbSNP | rs121909244 |
dbSNP (classic) | rs121909244 |
ClinGen | rs121909244 |
ebi | rs121909244 |
HLI | rs121909244 |
Exac | rs121909244 |
Gnomad | rs121909244 |
Varsome | rs121909244 |
LitVar | rs121909244 |
Map | rs121909244 |
PheGenI | rs121909244 |
Biobank | rs121909244 |
1000 genomes | rs121909244 |
hgdp | rs121909244 |
ensembl | rs121909244 |
geneview | rs121909244 |
scholar | rs121909244 |
rs121909244 | |
pharmgkb | rs121909244 |
gwascentral | rs121909244 |
openSNP | rs121909244 |
23andMe | rs121909244 |
SNPshot | rs121909244 |
SNPdbe | rs121909244 |
MSV3d | rs121909244 |
GWAS Ctlg | rs121909244 |
Max Magnitude | 0 |
aka c.1484C>T (p.Pro495Leu or P495L)
ClinVar | |
---|---|
Risk | rs121909244(T;T) |
Alt | rs121909244(T;T) |
Reference | Rs121909244(C;C) |
Significance | Pathogenic |
Disease | Familial partial lipodystrophy 3 Diabetes Mellitus Familial partial lipodystrophy Obesity |
Variation | info |
Gene | PPARG |
CLNDBN | Familial partial lipodystrophy 3 Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension Familial partial lipodystrophy Obesity |
Reversed | 0 |
HGVS | NC_000003.11:g.12475610C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008612.3, RCV000288354.1, RCV000343316.1, RCV000382908.1, |