|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Folate deficiency and the presence of the 677C > T (CT) polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene have been implicated in the causation of malformations in the fetus (particularly cleft lip and palate and neural tube defects).
|
17951123 |
2008 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela.
|
19447376 |
2009 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe.
|
18452350 |
2008 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China.
|
16470725 |
2006 |
|
rs1217691063
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Maternal C677T MTHFR polymorphism and environmental factors are associated with cleft lip and palate in a Mexican population.
|
23787444 |
2013 |
|
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 |
|
rs1051266
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphism of reduced folate carrier 1 (A80G) and non-syndromic cleft lip/palate: A systematic review and meta-analysis.
|
30579244 |
2019 |
|
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 |
|
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 |
|
rs12532
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association between MSX1 rs12532 polymorphism with nonsyndromic unilateral complete cleft lip and palate and tooth agenesis.
|
31568994 |
2020 |
|
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 |
|
rs1269636220
|
|
|
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 |
|
rs1306416169
|
|
|
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 |
|
rs147680216
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion we found an rs147680216 G>A mutation that was associated with non-syndromic cleft lip and palate in the Wnt10a gene.
|
31155400 |
2019 |
|
rs1487309678
|
|
|
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 |
|
rs17820943
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results showed that rs17820943 and rs6072081 at 20q12 were associated with NSCL/P, especially with the CLP subtype in a Southern Chinese Han cohort.
|
31713353 |
2020 |
|
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 |
|
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 |
|
rs2236225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population.
|
25129243 |
2014 |
|
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 |
|
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 |