Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255245
rs879255245
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1847604
Disease:
Van der Woude syndrome 2
0.800 GeneticVariation UNIPROT Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. 24360809 2014
dbSNP: rs752673677
rs752673677
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1847604
Disease:
Van der Woude syndrome 2
0.800 GeneticVariation UNIPROT
dbSNP: rs752673677
rs752673677
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1847604
Disease:
Van der Woude syndrome 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs879255245
rs879255245
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1847604
Disease:
Van der Woude syndrome 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs41268753
rs41268753
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0008925
Disease:
Cleft Palate
0.730 GeneticVariation BEFREE Moreover, it is known that this SNP, as well as another variant, rs41268753 (p.T454M), are associated with nonsyndromic cleft palate and that rs41268753 negatively affects GRHL3 transcriptional activity. 29702134 2018
dbSNP: rs41268753
rs41268753
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0008925
Disease:
Cleft Palate
0.730 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
dbSNP: rs41268753
rs41268753
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0008925
Disease:
Cleft Palate
0.730 GeneticVariation BEFREE In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). 27018472 2016
dbSNP: rs41268753
rs41268753
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0008925
Disease:
Cleft Palate
0.730 GeneticVariation BEFREE The variant rs41268753 in GRHL3 increases the risk for cleft palate in European population, but our findings failed to detect the link between two GRHL3 SNPs (rs2486668 and rs545809) and risk to NSOFC in the Han Chinese cohort. 27459192 2016
dbSNP: rs41268753
rs41268753
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0008925
Disease:
Cleft Palate
T 0.730 GeneticVariation GWASCAT In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). 27018472 2016
dbSNP: rs797044857
rs797044857
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0000772
Disease:
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate. 28886269 2018
dbSNP: rs797044857
rs797044857
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0000772
Disease:
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Rare deleterious variants in GRHL3 are associated with human spina bifida. 28276201 2017
dbSNP: rs797044857
rs797044857
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0000772
Disease:
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. 24360809 2014
dbSNP: rs1553172687
rs1553172687
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1847604
Disease:
Van der Woude syndrome 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs770938921
rs770938921
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs879255243
rs879255243
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1847604
Disease:
Van der Woude syndrome 2
C 0.700 CausalMutation CLINVAR
dbSNP: rs879255244
rs879255244
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1847604
Disease:
Van der Woude syndrome 2
T 0.700 CausalMutation CLINVAR
dbSNP: rs879255573
rs879255573
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1847604
Disease:
Van der Woude syndrome 2
CTG 0.700 CausalMutation CLINVAR
dbSNP: rs946439477
rs946439477
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1847604
Disease:
Van der Woude syndrome 2
0.700 GeneticVariation UNIPROT
dbSNP: rs41268753
rs41268753
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C2981150
Disease:
Uranostaphyloschisis
0.030 GeneticVariation BEFREE Moreover, it is known that this SNP, as well as another variant, rs41268753 (p.T454M), are associated with nonsyndromic cleft palate and that rs41268753 negatively affects GRHL3 transcriptional activity. 29702134 2018
dbSNP: rs41268753
rs41268753
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1837218
Disease:
Cleft palate, isolated
0.030 GeneticVariation BEFREE Moreover, it is known that this SNP, as well as another variant, rs41268753 (p.T454M), are associated with nonsyndromic cleft palate and that rs41268753 negatively affects GRHL3 transcriptional activity. 29702134 2018
dbSNP: rs41268753
rs41268753
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1837218
Disease:
Cleft palate, isolated
0.030 GeneticVariation BEFREE In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). 27018472 2016
dbSNP: rs41268753
rs41268753
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C2981150
Disease:
Uranostaphyloschisis
0.030 GeneticVariation BEFREE The variant rs41268753 in GRHL3 increases the risk for cleft palate in European population, but our findings failed to detect the link between two GRHL3 SNPs (rs2486668 and rs545809) and risk to NSOFC in the Han Chinese cohort. 27459192 2016
dbSNP: rs41268753
rs41268753
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C2981150
Disease:
Uranostaphyloschisis
0.030 GeneticVariation BEFREE In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). 27018472 2016
dbSNP: rs41268753
rs41268753
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C1837218
Disease:
Cleft palate, isolated
0.030 GeneticVariation BEFREE The variant rs41268753 in GRHL3 increases the risk for cleft palate in European population, but our findings failed to detect the link between two GRHL3 SNPs (rs2486668 and rs545809) and risk to NSOFC in the Han Chinese cohort. 27459192 2016
dbSNP: rs2486668
rs2486668
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C4551722
Disease:
Encephalocele
0.010 GeneticVariation BEFREE In the case-control study, significant associations were found between C27G genetic variants on rs2486668 and risk for spina bifida and encephalocele, respectively, under different genetic models. 31332962 2019