rs587776825
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;C) | 3.6 | Maturity onset of diabetes of the young (type 3) |
(D;D) | 0 | common genotype |
Make rs587776825(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 120994322 |
Gene | HNF1A |
is a | snp |
is | mentioned by |
dbSNP | rs587776825 |
dbSNP (classic) | rs587776825 |
ClinGen | rs587776825 |
ebi | rs587776825 |
HLI | rs587776825 |
Exac | rs587776825 |
Gnomad | rs587776825 |
Varsome | rs587776825 |
LitVar | rs587776825 |
Map | rs587776825 |
PheGenI | rs587776825 |
Biobank | rs587776825 |
1000 genomes | rs587776825 |
hgdp | rs587776825 |
ensembl | rs587776825 |
geneview | rs587776825 |
scholar | rs587776825 |
rs587776825 | |
pharmgkb | rs587776825 |
gwascentral | rs587776825 |
openSNP | rs587776825 |
23andMe | rs587776825 |
SNPshot | rs587776825 |
SNPdbe | rs587776825 |
MSV3d | rs587776825 |
GWAS Ctlg | rs587776825 |
Max Magnitude | 3.6 |
aka c.872dupC
ClinVar | |
---|---|
Risk | rs587776825(C;C) |
Alt | rs587776825(C;C) |
Reference | Rs587776825(-;-) |
Significance | Pathogenic |
Disease | Maturity-onset diabetes of the young Clear cell carcinoma of kidney Diabetes mellitus Hepatic adenomas Diabetes mellitus type 1 not provided |
Variation | info |
Gene | HNF1A |
CLNDBN | Maturity-onset diabetes of the young, type 3 Clear cell carcinoma of kidney Diabetes mellitus, insulin-dependent, 20 Hepatic adenomas, familial Diabetes mellitus type 1 not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.121432125dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016062.26, RCV000016063.23, RCV000016064.23, RCV000022617.5, RCV000117225.1, RCV000490055.1, |