rs1799816
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1799816(A;A) |
Make rs1799816(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 7125507 |
Gene | INSR |
is a | snp |
is | mentioned by |
dbSNP | rs1799816 |
dbSNP (classic) | rs1799816 |
ClinGen | rs1799816 |
ebi | rs1799816 |
HLI | rs1799816 |
Exac | rs1799816 |
Gnomad | rs1799816 |
Varsome | rs1799816 |
LitVar | rs1799816 |
Map | rs1799816 |
PheGenI | rs1799816 |
Biobank | rs1799816 |
1000 genomes | rs1799816 |
hgdp | rs1799816 |
ensembl | rs1799816 |
geneview | rs1799816 |
scholar | rs1799816 |
rs1799816 | |
pharmgkb | rs1799816 |
gwascentral | rs1799816 |
openSNP | rs1799816 |
23andMe | rs1799816 |
SNPshot | rs1799816 |
SNPdbe | rs1799816 |
MSV3d | rs1799816 |
GWAS Ctlg | rs1799816 |
GMAF | 0.003673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1799816(A;A) |
Alt | rs1799816(A;A) |
Reference | Rs1799816(G;G) |
Significance | Other |
Disease | Diabetes mellitus type 2 not specified Insulin-resistant diabetes mellitus AND acanthosis nigricans Monogenic diabetes |
Variation | info |
Gene | INSR |
CLNDBN | Diabetes mellitus type 2 not specified Insulin-resistant diabetes mellitus AND acanthosis nigricans Monogenic diabetes |
Reversed | 1 |
HGVS | NC_000019.9:g.7125518C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015822.28, RCV000175131.2, RCV000344820.1, RCV000445519.1, |