rs2233578
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs2233578(C;T) |
Make rs2233578(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 127614497 |
Gene | PAX4 |
is a | snp |
is | mentioned by |
dbSNP | rs2233578 |
dbSNP (classic) | rs2233578 |
ClinGen | rs2233578 |
ebi | rs2233578 |
HLI | rs2233578 |
Exac | rs2233578 |
Gnomad | rs2233578 |
Varsome | rs2233578 |
LitVar | rs2233578 |
Map | rs2233578 |
PheGenI | rs2233578 |
Biobank | rs2233578 |
1000 genomes | rs2233578 |
hgdp | rs2233578 |
ensembl | rs2233578 |
geneview | rs2233578 |
scholar | rs2233578 |
rs2233578 | |
pharmgkb | rs2233578 |
gwascentral | rs2233578 |
openSNP | rs2233578 |
23andMe | rs2233578 |
SNPshot | rs2233578 |
SNPdbe | rs2233578 |
MSV3d | rs2233578 |
GWAS Ctlg | rs2233578 |
GMAF | 0.02433 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2233578(T;T) |
Alt | rs2233578(T;T) |
Reference | Rs2233578(C;C) |
Significance | Other |
Disease | Diabetes mellitus not specified Maturity-onset diabetes of the young Monogenic diabetes |
Variation | info |
Gene | PAX4 |
CLNDBN | Diabetes mellitus, ketosis-prone, susceptibility to not specified Maturity-onset diabetes of the young Monogenic diabetes |
Reversed | 1 |
HGVS | NC_000007.13:g.127254551G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014801.2, RCV000117891.2, RCV000397400.1, RCV000445408.1, |