Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1554442082
rs1554442082
TWIST1
C 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 A Twist in fate: evolutionary comparison of Twist structure and function. 11992718

2002
dbSNP: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR A Twist in fate: evolutionary comparison of Twist structure and function. 11992718

2002
dbSNP: rs121909188
rs121909188
TWIST1
A 0.700 CausalMutation CLINVAR Mutations in the human TWIST gene. 10649491

2000
dbSNP: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583

1998
dbSNP: rs1554441995
rs1554441995
TWIST1
G 0.700 GeneticVariation CLINVAR A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. 9792856

1998
dbSNP: rs1554442019
rs1554442019
TWIST1
C 0.700 GeneticVariation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583

1998
dbSNP: rs121909188
rs121909188
TWIST1
A 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 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: rs1085307555
rs1085307555
TWIST1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555750741
rs1555750741
ERF
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555750795
rs1555750795
ERF
A 0.700 CausalMutation CLINVAR

dbSNP: rs1563159980
rs1563159980
TWIST1
GAGGGCAGCGTGGGGATGATCT 0.700 CausalMutation CLINVAR

dbSNP: rs1563160116
rs1563160116
TWIST1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1563160337
rs1563160337
TWIST1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1568472771
rs1568472771
ERF
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568475667
rs1568475667
ERF
C 0.700 CausalMutation CLINVAR

dbSNP: rs587777006
rs587777006
ERF
A 0.700 CausalMutation CLINVAR

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