SHC1, SHC adaptor protein 1, 6464

N. diseases: 80; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3766920
rs3766920
Entrez Id: 6464;90780;101928120
Gene Symbol: SHC1;PYGO2;LOC101928120
SHC1;PYGO2;LOC101928120
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
A 0.710 GeneticVariation GWASCAT We identified 2 new susceptibility loci for IBD at genome-wide significance: rs3766920 near PYGO2-SHC1 at 1q21 and rs16953946 in CDYL2 at 16q23. 27569725 2016
dbSNP: rs3766920
rs3766920
Entrez Id: 6464;90780;101928120
Gene Symbol: SHC1;PYGO2;LOC101928120
SHC1;PYGO2;LOC101928120
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.710 GeneticVariation BEFREE We identified 2 new susceptibility loci for IBD at genome-wide significance: rs3766920 near PYGO2-SHC1 at 1q21 and rs16953946 in CDYL2 at 16q23. 27569725 2016
dbSNP: rs8191981
rs8191981
Entrez Id: 6464
Gene Symbol: SHC1
SHC1
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs4845401
rs4845401
Entrez Id: 6464
Gene Symbol: SHC1
SHC1
CUI: C0023508
Disease:
White Blood Cell Count procedure
0.700 GeneticVariation GWASDB Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). 21738479 2011
dbSNP: rs115641580
rs115641580
Entrez Id: 6464
Gene Symbol: SHC1
SHC1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The 92C>T substitution in the CH2 region consists in an amino acid substitution at codon 31 (proline to leucine, P31L), and was detected in heterozygous status only in one CAD subject. 16519809 2006
dbSNP: rs8191979
rs8191979
Entrez Id: 6464
Gene Symbol: SHC1
SHC1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The insulin-like growth factor-1 pathway mediator genes: SHC1 Met300Val shows a protective effect in breast cancer. 15308584 2004
dbSNP: rs8191979
rs8191979
Entrez Id: 6464
Gene Symbol: SHC1
SHC1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The insulin-like growth factor-1 pathway mediator genes: SHC1 Met300Val shows a protective effect in breast cancer. 15308584 2004
dbSNP: rs8191979
rs8191979
Entrez Id: 6464
Gene Symbol: SHC1
SHC1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE In conclusion, by itself the Met300Val polymorphism of Shc has no major impact on birth weight and length, insulin sensitivity index, acute glucose-induced insulin secretion, or prevalence of random type 2 diabetes mellitus. 10372739 1999