rs193929377
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193929377(-;-) |
Make rs193929377(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 27920326 |
Gene | PDX1, PDX1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs193929377 |
dbSNP (classic) | rs193929377 |
ClinGen | rs193929377 |
ebi | rs193929377 |
HLI | rs193929377 |
Exac | rs193929377 |
Gnomad | rs193929377 |
Varsome | rs193929377 |
LitVar | rs193929377 |
Map | rs193929377 |
PheGenI | rs193929377 |
Biobank | rs193929377 |
1000 genomes | rs193929377 |
hgdp | rs193929377 |
ensembl | rs193929377 |
geneview | rs193929377 |
scholar | rs193929377 |
rs193929377 | |
pharmgkb | rs193929377 |
gwascentral | rs193929377 |
openSNP | rs193929377 |
23andMe | rs193929377 |
SNPshot | rs193929377 |
SNPdbe | rs193929377 |
MSV3d | rs193929377 |
GWAS Ctlg | rs193929377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193929377(-;-) |
Alt | rs193929377(-;-) |
Reference | Rs193929377(C;C) |
Significance | Pathogenic |
Disease | Permanent neonatal diabetes mellitus |
Variation | info |
Gene | PDX1-AS1 PDX1 |
CLNDBN | Permanent neonatal diabetes mellitus |
Reversed | 0 |
HGVS | NC_000013.10:g.28494463delC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020214.2, |
[PMID 9326926] Early-onset type-II diabetes mellitus (MODY4) linked to IPF1.