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rs1799817

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1799817(C;T)
Make rs1799817(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7125286
GeneINSR
is asnp
is mentioned by
dbSNPrs1799817
dbSNP (classic)rs1799817
ClinGenrs1799817
ebirs1799817
HLIrs1799817
Exacrs1799817
Gnomadrs1799817
Varsomers1799817
LitVarrs1799817
Maprs1799817
PheGenIrs1799817
Biobankrs1799817
1000 genomesrs1799817
hgdprs1799817
ensemblrs1799817
geneviewrs1799817
scholarrs1799817
googlers1799817
pharmgkbrs1799817
gwascentralrs1799817
openSNPrs1799817
23andMers1799817
SNPshotrs1799817
SNPdbers1799817
MSV3drs1799817
GWAS Ctlgrs1799817
GMAF0.2677
Max Magnitude0
? (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 21645371OA-icon.png] 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 18212354OA-icon.png] Genes in glucose metabolism and association with spina bifida.


[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


[PMID 19387820OA-icon.png] 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 25927028OA-icon.png] 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,