Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10509291
rs10509291 		0.010 GeneticVariation BEFREE A total of 316 Chinese AHF participants (158 patients with CRS1 and 158 age- and sex-matched controls) were recruited for the present observational study to investigate the association between nine common SIRT1 SNPs (i.e., rs7895833 G > A, rs10509291 T > A, rs3740051 A > G, rs932658 A > C, rs33957861 C > T, rs7069102 C > G, rs2273773 T > C, rs3818292 A > G, and rs1467568 A > G) and the susceptibility to CRS1. 31355422

2019
dbSNP: rs1467568
rs1467568
SIRT1
0.010 GeneticVariation BEFREE Significant differences in genotype distribution between the control and CRS1 groups were found for rs7895833 and rs1467568</s</span>pan>. 31355422

2019
dbSNP: rs2273773
rs2273773
SIRT1
0.010 GeneticVariation BEFREE A total of 316 Chinese AHF participants (158 patients with CRS1 and 158 age- and sex-matched controls) were recruited for the present observational study to investigate the association between nine common SIRT1 SNPs (i.e., rs7895833 G > A, rs10509291 T > A, rs3740051 A > G, rs932658 A > C, rs33957861 C > T, rs7069102 C > G, rs2273773 T > C, rs3818292 A > G, and rs1467568 A > G) and the susceptibility to CRS1. 31355422

2019
dbSNP: rs33957861
rs33957861
SIRT1
0.010 GeneticVariation BEFREE A total of 316 Chinese AHF participants (158 patients with CRS1 and 158 age- and sex-matched controls) were recruited for the present observational study to investigate the association between nine common SIRT1 SNPs (i.e., rs7895833 G > A, rs10509291 T > A, rs3740051 A > G, rs932658 A > C, rs33957861 C > T, rs7069102 C > G, rs2273773 T > C, rs3818292 A > G, and rs1467568 A > G) and the susceptibility to CRS1. 31355422

2019
dbSNP: rs3740051
rs3740051
SIRT1
0.010 GeneticVariation BEFREE A total of 316 Chinese AHF participants (158 patients with CRS1 and 158 age- and sex-matched controls) were recruited for the present observational study to investigate the association between nine common SIRT1 SNPs (i.e., rs7895833 G > A, rs10509291 T > A, rs3740051 A > G, rs932658 A > C, rs33957861 C > T, rs7069102 C > G, rs2273773 T > C, rs3818292 A > G, and rs1467568 A > G) and the susceptibility to CRS1. 31355422

2019
dbSNP: rs3818292
rs3818292
SIRT1
0.010 GeneticVariation BEFREE A total of 316 Chinese AHF participants (158 patients with CRS1 and 158 age- and sex-matched controls) were recruited for the present observational study to investigate the association between nine common SIRT1 SNPs (i.e., rs7895833 G > A, rs10509291 T > A, rs3740051 A > G, rs932658 A > C, rs33957861 C > T, rs7069102 C > G, rs2273773 T > C, rs3818292 A > G, and rs1467568 A > G) and the susceptibility to CRS1. 31355422

2019
dbSNP: rs7069102
rs7069102
SIRT1
0.010 GeneticVariation BEFREE A total of 316 Chinese AHF participants (158 patients with CRS1 and 158 age- and sex-matched controls) were recruited for the present observational study to investigate the association between nine common SIRT1 SNPs (i.e., rs7895833 G > A, rs10509291 T > A, rs3740051 A > G, rs932658 A > C, rs33957861 C > T, rs7069102 C > G, rs2273773 T > C, rs3818292 A > G, and rs1467568 A > G) and the susceptibility to CRS1. 31355422

2019
dbSNP: rs7895833
rs7895833 		0.010 GeneticVariation BEFREE Significant differences in genotype distribution between the control and CRS1 groups were found for rs7895833 and rs146</span>7568. 31355422

2019
dbSNP: rs932658
rs932658
SIRT1
0.010 GeneticVariation BEFREE A total of 316 Chinese AHF participants (158 patients with CRS1 and 158 age- and sex-matched controls) were recruited for the present observational study to investigate the association between nine common SIRT1 SNPs (i.e., rs7895833 G > A, rs10509291 T > A, rs3740051 A > G, rs932658 A > C, rs33957861 C > T, rs7069102 C > G, rs2273773 T > C, rs3818292 A > G, and rs1467568 A > G) and the susceptibility to CRS1. 31355422

2019
dbSNP: rs121909190
rs121909190
TWIST1
T 0.800 CausalMutation CLINVAR

dbSNP: rs121909191
rs121909191
TWIST1
A 0.800 CausalMutation CLINVAR

dbSNP: rs1085307555
rs1085307555
TWIST1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Mutations in the human TWIST gene. 10649491

2000
dbSNP: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 19373776

2009
dbSNP: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167

1997
dbSNP: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727

2010
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. 19755431

2010
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718

2002
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. 14513358

2003
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727

2010
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 8988167

1997
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. 8988166

1997
dbSNP: rs1554441991
rs1554441991
TWIST1
GGGCAGCGTGGGGATGATCTTC 0.700 CausalMutation CLINVAR Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 16251895

2006
dbSNP: rs1554441993
rs1554441993
TWIST1
TG 0.700 GeneticVariation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013