rs121917718
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121917718(C;T) |
Make rs121917718(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 127613804 |
Gene | PAX4 |
is a | snp |
is | mentioned by |
dbSNP | rs121917718 |
dbSNP (classic) | rs121917718 |
ClinGen | rs121917718 |
ebi | rs121917718 |
HLI | rs121917718 |
Exac | rs121917718 |
Gnomad | rs121917718 |
Varsome | rs121917718 |
LitVar | rs121917718 |
Map | rs121917718 |
PheGenI | rs121917718 |
Biobank | rs121917718 |
1000 genomes | rs121917718 |
hgdp | rs121917718 |
ensembl | rs121917718 |
geneview | rs121917718 |
scholar | rs121917718 |
rs121917718 | |
pharmgkb | rs121917718 |
gwascentral | rs121917718 |
openSNP | rs121917718 |
23andMe | rs121917718 |
SNPshot | rs121917718 |
SNPdbe | rs121917718 |
MSV3d | rs121917718 |
GWAS Ctlg | rs121917718 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917718(T;T) |
Alt | rs121917718(T;T) |
Reference | Rs121917718(C;C) |
Significance | Pathogenic |
Disease | Maturity-onset diabetes of the young |
Variation | info |
Gene | PAX4 |
CLNDBN | Maturity-onset diabetes of the young, type 9 |
Reversed | 1 |
HGVS | NC_000007.13:g.127253858G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014803.25, |