|
rs227731
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphism rs227731 increased the risk of CLP when analyzed under a dominant model (OR = 1.732; 95% CI, 0.184-2.253; p = 0.0044).
|
22021054 |
2012 |
|
rs4460498
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This suggests that FOXE1 (rs4460498 and rs3758249) is strongly associated with non-syndromic cleft lip and palate in populations in northeast China, and further study between FOXE1 and non-syndromic orofacial clefts is necessary.
|
26100861 |
2015 |
|
rs642961
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The goal of this study was to confirm the reported association between a noncoding SNP (rs642961) in IRF6 and nonsyndromic cleft lip and palate.
|
21039277 |
2010 |
|
rs2106416
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of the 30 mutations found in exon 6, 43.34% (n = 13), 23.33% (n = 7), 13.33% (n = 4) and 20% (n = 6) were found in groups 1, 2, 3 and 4, respectively. c.261 C > T (rs2106416), a silent mutation, was detected in 26 subjects, and found more significantly (p = 0.003) in patients with CLP (groups 1 and 2 - 23.75%), compared with those without CLP (groups 3 and 4 - 8.23%).
|
25166767 |
2014 |
|
rs3923086
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004).
|
22370446 |
2012 |
|
rs7224837
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004).
|
22370446 |
2012 |
|
rs757422353
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report on an extensive pedigree presenting with HDGC, CLP and a CDH1 splice site mutation (c.687 + 1G > A) and review the literature for families with CDH1 mutations, HDGC and CLP.
|
30306390 |
2019 |
|
rs876658146
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report on an extensive pedigree presenting with HDGC, CLP and a CDH1 splice site mutation (c.687 + 1G > A) and review the literature for families with CDH1 mutations, HDGC and CLP.
|
30306390 |
2019 |
|
rs401681
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Common genetic polymorphisms on chromosome 5p15.33, including rs401681 in cleft lip and palate transmembrane 1-like gene (CLPTM1L), have been implicated in susceptibility to lung cancer through genome-wide association studies (GWAS); however, subsequent replication studies yielded controversial results.
|
23653681 |
2013 |
|
rs401681
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Several recent studies have provided evidence that rs401681 polymorphisms in intronic region of cleft lip and palate trans-membrane 1-like (CLPTM1L) gene sequence are associated with pancreatic cancer (PC) development, but a comprehensive synopsis is not available.
|
25284078 |
2015 |
|
rs401681
|
|
|
0.040 |
GeneticVariation |
BEFREE |
<i>Cleft lip and palate transmembrane 1-like</i> (<i>CLPTM1L</i>) gene rs402710 (C > T) and rs401681 (C > T) polymorphisms have been widely studied for their potential relation to cancer risk, but studies have produced conflicting results.
|
29254260 |
2017 |
|
rs401681
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Recently, one genome-wide association study (GWAS), conducted exclusively among women of European ancestry, has discovered that cleft lip and palate transmembrane 1-like telomerase reverse transcriptase (CLPTM1L-TERT) rs401681 polymorphism was significantly associated with pancreatic cancer risk.
|
24577890 |
2014 |
|
rs402710
|
|
|
0.010 |
GeneticVariation |
BEFREE |
<i>Cleft lip and palate transmembrane 1-like</i> (<i>CLPTM1L</i>) gene rs402710 (C > T) and rs401681 (C > T) polymorphisms have been widely studied for their potential relation to cancer risk, but studies have produced conflicting results.
|
29254260 |
2017 |
|
rs1257891978
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively.
|
26199944 |
2015 |
|
rs121909635
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.
|
16606836 |
2006 |
|
rs121909636
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.
|
16606836 |
2006 |
|
rs267606805
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.
|
16606836 |
2006 |
|
rs267606806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.
|
16606836 |
2006 |
|
rs397515445
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively.
|
26199944 |
2015 |
|
rs3758249
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This suggests that FOXE1 (rs4460498 and rs3758249) is strongly associated with non-syndromic cleft lip and palate in populations in northeast China, and further study between FOXE1 and non-syndromic orofacial clefts is necessary.
|
26100861 |
2015 |
|
rs534391501
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significantly, we also report the identification of 2 unique missense mutations in the NME proteins in patients with CLP (NME1 R18Q in an IRF6 and GRHL3 mutation-negative patient with van der Woude syndrome and NME2 G71V in a patient with nonsyndromic CLP).
|
28767310 |
2017 |
|
rs2235371
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SNPs in IRF6 (rs2235371 and rs64296) were genotyped in Hispanic and non-Hispanic white multiplex (122) and simplex (308) nonsyndromic cleft lip and palate families.
|
21039277 |
2010 |
|
rs7552506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The A allele of SNP rs861019 in exon 2 and the G allele of SNP rs7552506 in intron 3 showed association with cleft lip and palate (CLP; odds ratios of 3.1 and 5.45, respectively).
|
18209213 |
2008 |
|
rs861019
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The A allele of SNP rs861019 in exon 2 and the G allele of SNP rs7552506 in intron 3 showed association with cleft lip and palate (CLP; odds ratios of 3.1 and 5.45, respectively).
|
18209213 |
2008 |
|
rs11696257
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphic Variants of V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B (rs13041247 and rs11696257) and Risk of Non-Syndromic Cleft Lip/Palate: Systematic Review and Meta-Analysis.
|
31387249 |
2019 |