rs114202595
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs114202595(A;A) |
Make rs114202595(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 127614533 |
Gene | PAX4 |
is a | snp |
is | mentioned by |
dbSNP | rs114202595 |
dbSNP (classic) | rs114202595 |
ClinGen | rs114202595 |
ebi | rs114202595 |
HLI | rs114202595 |
Exac | rs114202595 |
Gnomad | rs114202595 |
Varsome | rs114202595 |
LitVar | rs114202595 |
Map | rs114202595 |
PheGenI | rs114202595 |
Biobank | rs114202595 |
1000 genomes | rs114202595 |
hgdp | rs114202595 |
ensembl | rs114202595 |
geneview | rs114202595 |
scholar | rs114202595 |
rs114202595 | |
pharmgkb | rs114202595 |
gwascentral | rs114202595 |
openSNP | rs114202595 |
23andMe | rs114202595 |
SNPshot | rs114202595 |
SNPdbe | rs114202595 |
MSV3d | rs114202595 |
GWAS Ctlg | rs114202595 |
Merged from | Rs121917717 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs114202595(A;A) rs114202595(T;T) |
Alt | rs114202595(A;A) rs114202595(T;T) |
Reference | Rs114202595(G;G) |
Significance | Pathogenic |
Disease | Diabetes mellitus type 2 |
Variation | info |
Gene | PAX4 |
CLNDBN | Diabetes mellitus type 2 |
Reversed | 0 |
HGVS | NC_000007.13:g.127254587G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014800.25, |