rs387906777
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906777(A;G) |
Make rs387906777(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 27924382 |
Gene | PDX1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906777 |
dbSNP (classic) | rs387906777 |
ClinGen | rs387906777 |
ebi | rs387906777 |
HLI | rs387906777 |
Exac | rs387906777 |
Gnomad | rs387906777 |
Varsome | rs387906777 |
LitVar | rs387906777 |
Map | rs387906777 |
PheGenI | rs387906777 |
Biobank | rs387906777 |
1000 genomes | rs387906777 |
hgdp | rs387906777 |
ensembl | rs387906777 |
geneview | rs387906777 |
scholar | rs387906777 |
rs387906777 | |
pharmgkb | rs387906777 |
gwascentral | rs387906777 |
openSNP | rs387906777 |
23andMe | rs387906777 |
SNPshot | rs387906777 |
SNPdbe | rs387906777 |
MSV3d | rs387906777 |
GWAS Ctlg | rs387906777 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906777(G;G) |
Alt | rs387906777(G;G) |
Reference | Rs387906777(A;A) |
Significance | Pathogenic |
Disease | Pancreatic agenesis Permanent neonatal diabetes mellitus |
Variation | info |
Gene | PDX1 |
CLNDBN | Pancreatic agenesis, congenital Permanent neonatal diabetes mellitus |
Reversed | 0 |
HGVS | NC_000013.10:g.28498519A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023034.3, RCV000239365.1, |