rs1799817
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1799817(C;T) |
Make rs1799817(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 7125286 |
Gene | INSR |
is a | snp |
is | mentioned by |
dbSNP | rs1799817 |
dbSNP (classic) | rs1799817 |
ClinGen | rs1799817 |
ebi | rs1799817 |
HLI | rs1799817 |
Exac | rs1799817 |
Gnomad | rs1799817 |
Varsome | rs1799817 |
LitVar | rs1799817 |
Map | rs1799817 |
PheGenI | rs1799817 |
Biobank | rs1799817 |
1000 genomes | rs1799817 |
hgdp | rs1799817 |
ensembl | rs1799817 |
geneview | rs1799817 |
scholar | rs1799817 |
rs1799817 | |
pharmgkb | rs1799817 |
gwascentral | rs1799817 |
openSNP | rs1799817 |
23andMe | rs1799817 |
SNPshot | rs1799817 |
SNPdbe | rs1799817 |
MSV3d | rs1799817 |
GWAS Ctlg | rs1799817 |
GMAF | 0.2677 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 21637951] A common variant in the adiponectin gene and polycystic ovary syndrome risk
[PMID 21824047] Genetic polymorphisms associated with steroids metabolism and insulin action in polycystic ovary syndrome
[PMID 21645371] Family association study between INSR gene polymorphisms and PCOS in Han Chinese
[PMID 17348446] Nested case-control study of energy regulation candidate gene single nucleotide polymorphisms and breast cancer.
[PMID 18212354] Genes in glucose metabolism and association with spina bifida.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 19387820] Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.
[PMID 22775283] Association of His1085His INSR gene polymorphism with type 2 diabetes in South Indians.
[PMID 25927028] An Association Study between INSR/NsiI (rs2059806) and INSR/PmlI (rs1799817) SNPs in Women with Polycystic Ovary Syndrome from West Azerbaijan Province, Iran
ClinVar | |
---|---|
Risk | rs1799817(T;T) |
Alt | rs1799817(T;T) |
Reference | Rs1799817(C;C) |
Significance | Non-pathogenic |
Disease | not specified Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans |
Variation | info |
Gene | INSR |
CLNDBN | not specified Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans |
Reversed | 1 |
HGVS | NC_000019.9:g.7125297G>A |
CLNSRC | |
CLNACC | RCV000175129.1, RCV000278910.1, RCV000333104.1, RCV000373687.1, |