rs7508518
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(G;G) | 0 | common in clinvar |
Make rs7508518(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 7293887 |
Gene | INSR |
is a | snp |
is | mentioned by |
dbSNP | rs7508518 |
dbSNP (classic) | rs7508518 |
ClinGen | rs7508518 |
ebi | rs7508518 |
HLI | rs7508518 |
Exac | rs7508518 |
Gnomad | rs7508518 |
Varsome | rs7508518 |
LitVar | rs7508518 |
Map | rs7508518 |
PheGenI | rs7508518 |
Biobank | rs7508518 |
1000 genomes | rs7508518 |
hgdp | rs7508518 |
ensembl | rs7508518 |
geneview | rs7508518 |
scholar | rs7508518 |
rs7508518 | |
pharmgkb | rs7508518 |
gwascentral | rs7508518 |
openSNP | rs7508518 |
23andMe | rs7508518 |
SNPshot | rs7508518 |
SNPdbe | rs7508518 |
MSV3d | rs7508518 |
GWAS Ctlg | rs7508518 |
GMAF | 0.1102 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs7508518(C;C) |
Alt | Rs7508518(C;C) |
Reference | Rs7508518(G;G) |
Significance | Non-pathogenic |
Disease | not specified Leprechaunism syndrome Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans |
Variation | info |
Gene | INSR |
CLNDBN | not specified Leprechaunism syndrome Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans |
Reversed | 0 |
HGVS | NC_000019.9:g.7293898G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000173085.3, RCV000261376.1, RCV000318884.1, RCV000375797.1, |