rs148685531
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148685531(A;A) |
Make rs148685531(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 2160825 |
Gene | INS, INS-IGF2 |
is a | snp |
is | mentioned by |
dbSNP | rs148685531 |
dbSNP (classic) | rs148685531 |
ClinGen | rs148685531 |
ebi | rs148685531 |
HLI | rs148685531 |
Exac | rs148685531 |
Gnomad | rs148685531 |
Varsome | rs148685531 |
LitVar | rs148685531 |
Map | rs148685531 |
PheGenI | rs148685531 |
Biobank | rs148685531 |
1000 genomes | rs148685531 |
hgdp | rs148685531 |
ensembl | rs148685531 |
geneview | rs148685531 |
scholar | rs148685531 |
rs148685531 | |
pharmgkb | rs148685531 |
gwascentral | rs148685531 |
openSNP | rs148685531 |
23andMe | rs148685531 |
SNPshot | rs148685531 |
SNPdbe | rs148685531 |
MSV3d | rs148685531 |
GWAS Ctlg | rs148685531 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148685531(A;A) rs148685531(C;C) |
Alt | rs148685531(A;A) rs148685531(C;C) |
Reference | Rs148685531(G;G) |
Significance | Pathogenic |
Disease | Hyperproinsulinemia |
Variation | info |
Gene | INS INS-IGF2 |
CLNDBN | Hyperproinsulinemia |
Reversed | 0 |
HGVS | NC_000011.9:g.2182055G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014306.26, |