SORBS1, sorbin and SH3 domain containing 1, 10580

N. diseases: 124; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12221125
rs12221125
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4918943
rs4918943
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0017654
Disease:
Glomerular Filtration Rate
A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs7089306
rs7089306
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs943346
rs943346
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs943346
rs943346
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10786213
rs10786213
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7074761
rs7074761
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7074761
rs7074761
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1326934
rs1326934
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0011881
Disease:
Diabetic Nephropathy
T 0.700 GeneticVariation GWASCAT Altogether, the random-effect meta-analysed rs1326934-C allele OR for diabetic nephropathy was 0.83 (95% CI 0.72, 0.96; p = 0.009). 25476525 2015
dbSNP: rs1326934
rs1326934
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
T 0.700 GeneticVariation GWASCAT SORBS1 gene, a new candidate for diabetic nephropathy: results from a multi-stage genome-wide association study in patients with type 1 diabetes. 25476525 2015
dbSNP: rs2281939
rs2281939
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0011847
Disease:
Diabetes
0.030 GeneticVariation BEFREE The GG genotype of rs2281939 was associated with a higher risk of diabetes at baseline, an earlier onset of diabetes, and higher steady-state plasma glucose levels in the modified insulin suppression test. 30002559 2018
dbSNP: rs2281939
rs2281939
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0011849
Disease:
Diabetes Mellitus
0.030 GeneticVariation BEFREE The GG genotype of rs2281939 was associated with a higher risk of diabetes at baseline, an earlier onset of diabetes, and higher steady-state plasma glucose levels in the modified insulin suppression test. 30002559 2018
dbSNP: rs2281939
rs2281939
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0011847
Disease:
Diabetes
0.030 GeneticVariation BEFREE T228A polymorphism of SORBS1 was not associated with the prevalence of diabetes. 18394047 2008
dbSNP: rs2281939
rs2281939
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0011849
Disease:
Diabetes Mellitus
0.030 GeneticVariation BEFREE T228A polymorphism of SORBS1 was not associated with the prevalence of diabetes. 18394047 2008
dbSNP: rs2281939
rs2281939
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0011847
Disease:
Diabetes
0.030 GeneticVariation BEFREE Further studies in 202 non-obese, 113 obese and 455 subjects with type 2 diabetes revealed that the A-allele of the T228A polymorphism in exon 7 exerted a protective role for both obesity [relative risk 0.466; 95% confidence interval (95% CI) 0.265-0.821] and diabetes (relative risk 0.668; 95% CI 0.472-0.945). 11532984 2001
dbSNP: rs2281939
rs2281939
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0011849
Disease:
Diabetes Mellitus
0.030 GeneticVariation BEFREE Further studies in 202 non-obese, 113 obese and 455 subjects with type 2 diabetes revealed that the A-allele of the T228A polymorphism in exon 7 exerted a protective role for both obesity [relative risk 0.466; 95% confidence interval (95% CI) 0.265-0.821] and diabetes (relative risk 0.668; 95% CI 0.472-0.945). 11532984 2001
dbSNP: rs2281939
rs2281939
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE We previously found a significant association between the T228A polymorphism and insulin resistance, obesity, and type 2 diabetes. 26962801 2016
dbSNP: rs2281939
rs2281939
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE Further studies in 202 non-obese, 113 obese and 455 subjects with type 2 diabetes revealed that the A-allele of the T228A polymorphism in exon 7 exerted a protective role for both obesity [relative risk 0.466; 95% confidence interval (95% CI) 0.265-0.821] and diabetes (relative risk 0.668; 95% CI 0.472-0.945). 11532984 2001
dbSNP: rs1316569885
rs1316569885
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation BEFREE The PNPLA3 p.I148M, TM6SF2 p.E167K and MBOAT7 p.G17E variants represent genetic determinants for progressive liver diseases. 31669075 2020
dbSNP: rs200192581
rs200192581
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation BEFREE The PNPLA3 p.I148M, TM6SF2 p.E167K and MBOAT7 p.G17E variants represent genetic determinants for progressive liver diseases. 31669075 2020
dbSNP: rs778438430
rs778438430
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation BEFREE The PNPLA3 p.I148M, TM6SF2 p.E167K and MBOAT7 p.G17E variants represent genetic determinants for progressive liver diseases. 31669075 2020
dbSNP: rs779770523
rs779770523
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation BEFREE The PNPLA3 p.I148M, TM6SF2 p.E167K and MBOAT7 p.G17E variants represent genetic determinants for progressive liver diseases. 31669075 2020
dbSNP: rs781314841
rs781314841
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation BEFREE The PNPLA3 p.I148M, TM6SF2 p.E167K and MBOAT7 p.G17E variants represent genetic determinants for progressive liver diseases. 31669075 2020
dbSNP: rs1373411103
rs1373411103
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0014544
Disease:
Epilepsy
0.010 GeneticVariation BEFREE A novel compound heterozygous mutation of the STAMBP (c.1119‑1G>T, c.968A>G) was identified in the present study and epilepsy was refractory, consistent with previously reported cases. 31638258 2019
dbSNP: rs945564833
rs945564833
Entrez Id: 10580
Gene Symbol: SORBS1
SORBS1
CUI: C0014544
Disease:
Epilepsy
0.010 GeneticVariation BEFREE A novel compound heterozygous mutation of the STAMBP (c.1119‑1G>T, c.968A>G) was identified in the present study and epilepsy was refractory, consistent with previously reported cases. 31638258 2019