Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893679
rs104893679
0.800 GeneticVariation UNIPROT Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. 23219996

2013

dbSNP: rs104893680
rs104893680
0.800 GeneticVariation UNIPROT Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. 23219996

2013

dbSNP: rs104893681
rs104893681
0.800 GeneticVariation UNIPROT Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. 23219996

2013

dbSNP: rs104893679
rs104893679
0.800 GeneticVariation UNIPROT Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 15314642

2004

dbSNP: rs104893679
rs104893679
0.800 GeneticVariation UNIPROT Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 15258860

2004

dbSNP: rs104893680
rs104893680
0.800 GeneticVariation UNIPROT Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 15314642

2004

dbSNP: rs104893680
rs104893680
0.800 GeneticVariation UNIPROT Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 15258860

2004

dbSNP: rs104893681
rs104893681
0.800 GeneticVariation UNIPROT Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 15258860

2004

dbSNP: rs104893681
rs104893681
0.800 GeneticVariation UNIPROT Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 15314642

2004

dbSNP: rs104893679
rs104893679
C 0.800 CausalMutation CLINVAR

dbSNP: rs104893680
rs104893680
T 0.800 CausalMutation CLINVAR

dbSNP: rs104893680
rs104893680
G 0.800 CausalMutation CLINVAR

dbSNP: rs104893681
rs104893681
G 0.800 CausalMutation CLINVAR

dbSNP: rs1559679965
rs1559679965
C 0.700 CausalMutation CLINVAR Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 15258860

2004

dbSNP: rs104893678
rs104893678
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057515576
rs1057515576
GAAAA 0.700 CausalMutation CLINVAR

dbSNP: rs771054395
rs771054395
0.700 GeneticVariation UNIPROT