Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556022641
rs1556022641
GPC4
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		A 0.700 CausalMutation CLINVAR Pathogenic Variants in GPC4 Cause Keipert Syndrome. 30982611

2019
dbSNP: rs1556022644
rs1556022644
GPC4
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		A 0.700 CausalMutation CLINVAR Pathogenic Variants in GPC4 Cause Keipert Syndrome. 30982611

2019
dbSNP: rs1556022962
rs1556022962
GPC4
CUI: C1840307
Disease: Distal shortening of limbs
Distal shortening of limbs 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1556025980
rs1556025980
GPC4
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1556028269
rs1556028269
GPC4
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1569339879
rs1569339879
GPC4
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		GGCAC 0.700 CausalMutation CLINVAR

dbSNP: rs1569341521
rs1569341521
GPC4
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1048369
rs1048369
GPC4
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 GeneticVariation BEFREE Gene polymorphism rs1048369 of glypican-4 (GPC4) gene has been reported to be significantly different between Epstein-Barr virus (EBV)-associated gastric carcinoma (GC) and EBV-negative GC. 31522169

2019
dbSNP: rs1048369
rs1048369
GPC4
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 GeneticVariation BEFREE There were significant differences in both the genotype and allelic frequency of GPC4 gene (rs1048369) between the EBVaGC and EBVnGC patients. 27071854

2016
dbSNP: rs1048369
rs1048369
GPC4
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		0.010 GeneticVariation BEFREE The distribution of GPC4 polymorphism rs1048369 was investigated in NPC patients, especially in those with EBV infection. 31522169

2019
dbSNP: rs1048369
rs1048369
GPC4
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 GeneticVariation BEFREE The GPC4 gene polymorphism rs1048369 was detected in 143 cases of EBV-positive NPC and in 19 cases of EBV-negative NPC using polymerase chain reaction. 31522169

2019
dbSNP: rs1048369
rs1048369
GPC4
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 GeneticVariation BEFREE There were significant differences in both the genotype and allelic frequency of GPC4 gene (rs1048369) between the EBVaGC and EBVnGC patients. 27071854

2016