Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894416
rs104894416
GJB6
T 0.830 CausalMutation CLINVAR

dbSNP: rs104894415
rs104894415
GJB6
0.830 GeneticVariation UNIPROT Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065

2000
dbSNP: rs104894415
rs104894415
GJB6
T 0.830 CausalMutation CLINVAR Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065

2000
dbSNP: rs104894416
rs104894416
GJB6
0.830 GeneticVariation UNIPROT Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065

2000
dbSNP: rs28937872
rs28937872
GJB6
A 0.740 CausalMutation CLINVAR Mutations in GJB6 cause hidrotic ectodermal dysplasia. 11017065

2000
dbSNP: rs104894415
rs104894415
GJB6
0.830 GeneticVariation UNIPROT A novel connexin 30 mutation in Clouston syndrome. 11874494

2002
dbSNP: rs104894416
rs104894416
GJB6
0.830 GeneticVariation UNIPROT Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. 11874494

2002
dbSNP: rs104894416
rs104894416
GJB6
0.830 GeneticVariation BEFREE Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome. 11874494

2002
dbSNP: rs104894415
rs104894415
GJB6
T 0.830 CausalMutation CLINVAR Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 12419304

2002
dbSNP: rs28937872
rs28937872
GJB6
A 0.740 CausalMutation CLINVAR Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 12419304

2002
dbSNP: rs104894415
rs104894415
GJB6
T 0.830 CausalMutation CLINVAR A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 12788524

2003
dbSNP: rs104894415
rs104894415
GJB6
0.830 GeneticVariation BEFREE Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome. 14708603

2003
dbSNP: rs28937872
rs28937872
GJB6
0.740 GeneticVariation BEFREE Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome. 14708603

2003
dbSNP: rs28937872
rs28937872
GJB6
A 0.740 CausalMutation CLINVAR Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome. 14708603

2003
dbSNP: rs104894416
rs104894416
GJB6
0.830 GeneticVariation BEFREE Nevertheless, screening of GJB6 revealed a heterozygous missense mutation (V37E) predicted to alter sequence and charge of the first transmembrane helix of Cx30, which was previously implicated in Clouston syndrome (Smith et al, 2002). 15140211

2004
dbSNP: rs1064794946
rs1064794946
GJB3 ; SMIM12 ; LOC105378642
0.010 GeneticVariation BEFREE Nevertheless, screening of GJB6 revealed a heterozygous missense mutation (V37E) predicted to alter sequence and charge of the first transmembrane helix of Cx30, which was previously implicated in Clouston syndrome (Smith et al, 2002). 15140211

2004
dbSNP: rs104894415
rs104894415
GJB6
T 0.830 CausalMutation CLINVAR Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 15213106

2004
dbSNP: rs28937872
rs28937872
GJB6
A 0.740 CausalMutation CLINVAR Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 15213106

2004
dbSNP: rs104894415
rs104894415
GJB6
T 0.830 CausalMutation CLINVAR Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. 15769851

2005
dbSNP: rs770612890
rs770612890
GJB6
T 0.700 GeneticVariation CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989

2006
dbSNP: rs104894415
rs104894415
GJB6
T 0.830 CausalMutation CLINVAR G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family. 20536673

2010
dbSNP: rs104894415
rs104894415
GJB6
T 0.830 CausalMutation CLINVAR We identified a recurrent heterozygous mutation c.31G>C (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome. 23219093

2013
dbSNP: rs104894415
rs104894415
GJB6
0.830 GeneticVariation BEFREE We identified a recurrent heterozygous mutation c.31G>C (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome. 23219093

2013
dbSNP: rs104894415
rs104894415
GJB6
0.830 GeneticVariation BEFREE We identified a recurrent heterozygous mutation c.31G>C (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome. 23219093

2013
dbSNP: rs768448761
rs768448761
RPE65
0.010 GeneticVariation BEFREE We identified a recurrent heterozygous mutation c.31G>C (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome. 23219093

2013