|
rs121434613
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These mutations include two "severe" G424R and K389N variants (responsible for severe ID and CCA) and the "mild" A365E variant (responsible for nonsyndromic mild ID).
|
31843706 |
2020 |
|
rs2143417
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Initial analysis identified significant associations between SNP rs2143417 and rs689466 in cyclooxygenase 2 (COX-2) and CCA risk, after adjusting for multiple comparisons (cutoff of P = 0.0028).
|
26276523 |
2015 |
|
rs689466
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Initial analysis identified significant associations between SNP rs2143417 and rs689466 in cyclooxygenase 2 (COX-2) and CCA risk, after adjusting for multiple comparisons (cutoff of P = 0.0028).
|
26276523 |
2015 |
|
rs1375604780
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Anterior gradient protein-2 and S100P were frequently expressed in perihilar CCA and PDAC, while neural cell adhesion molecule and luminal epithelial membrane antigen were common in CCA components of c-HC-CCA.
|
24446421 |
2014 |
|
rs2228145
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, we assessed the association of the 48892 A/C (Asp358Ala) polymorphism in exon 9 of the IL-6R gene in 79 CCA cases compared to 80 healthy controls using the PCR- RFLP technique.
|
25041016 |
2014 |
|
rs34612342
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to re-evaluate the MUTYH hotspot mutations p.Y179C (rs34612342) and p.G396D (rs36053993) as genetic susceptibility factors in a large CCA cohort.
|
24420788 |
2014 |
|
rs36053993
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to re-evaluate the MUTYH hotspot mutations p.Y179C (rs34612342) and p.G396D (rs36053993) as genetic susceptibility factors in a large CCA cohort.
|
24420788 |
2014 |
|
rs6726395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed that whereas the NRF2 SNPs were not associated with CCA risk (p>0.05), Kaplan-Meier analysis of 88 intrahepatic CCA patients showed median survival time with rs6726395 genotypes of GG and AA/AG to be 344±138 (95%CI: 73-615) days and 172±37 (95%CI: 100-244) days, respectively, (p<0.006).
|
24528044 |
2014 |
|
rs3219472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings suggest that since significantly increased CCA risk was found in individuals with a homozygous variant genotype for rs3219472, it may be a biomarker for screening individuals at high risk of developing the disease.
|
23138270 |
2013 |
|
rs3219476
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For rs3219476, compared with subjects carrying the MYH T/T genotype, those with the T/G genotype had a reduced risk of CCA (OR=0.359, 95% CI=0.17-0.758, P=0.006).
|
23138270 |
2013 |
|
rs1544410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A strong association was observed between therapy non-response and the NR1I1 CCA (bAt) haplotype consisting of rs1544410 (BsmI) C, rs7975232 (ApaI) C and rs731236 (TaqI) A alleles.
|
22300961 |
2012 |
|
rs2910164
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated rs2910164 in a large European-based cholangiocarcinoma (CCA) cohort.
|
22893469 |
2012 |
|
rs731236
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A strong association was observed between therapy non-response and the NR1I1 CCA (bAt) haplotype consisting of rs1544410 (BsmI) C, rs7975232 (ApaI) C and rs731236 (TaqI) A alleles.
|
22300961 |
2012 |
|
rs5443
|
|
|
0.010 |
GeneticVariation |
BEFREE |
GNB3 825C>T SNP may be a novel independent prognostic marker for patients suffering from extrahepatic CCA with the CC genotype to be associated with a favorable clinical outcome.
|
19968497 |
2010 |
|
rs104886003
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%).
|
18181165 |
2008 |
|
rs11053781
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two of the NKG2D SNPs were associated with an increased risk of CCA: rs11053781 [odds ratio (OR) = 2.08, 95% confidence interval (CI) = 1.31-3.29, corrected P (P(c)) = 0.011] and rs2617167 (OR = 2.32, 95% CI = 1.47-3.66, P(c) = 0.0020).
|
18023027 |
2008 |
|
rs2617167
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two of the NKG2D SNPs were associated with an increased risk of CCA: rs11053781 [odds ratio (OR) = 2.08, 95% confidence interval (CI) = 1.31-3.29, corrected P (P(c)) = 0.011] and rs2617167 (OR = 2.32, 95% CI = 1.47-3.66, P(c) = 0.0020).
|
18023027 |
2008 |
|
rs752742313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%).
|
18181165 |
2008 |
|
rs1465262924
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The second is a homozygous missense mutation in codon 222 [CCA (Pro) --> ACT (Thr) = P222T] in the gene identified from a female neonate with salt-wasting disorder.
|
12050213 |
2002 |
|
rs201988564
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The second is a homozygous missense mutation in codon 222 [CCA (Pro) --> ACT (Thr) = P222T] in the gene identified from a female neonate with salt-wasting disorder.
|
12050213 |
2002 |
|
rs565227443
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
|
rs145259927
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.
|
27196565 |
2016 |
|
rs1554123065
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.
|
27196565 |
2016 |
|
rs145259927
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.
|
25834781 |
2015 |
|
rs1554123065
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.
|
25834781 |
2015 |