Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908188
rs121908188
SELENON
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554888939
rs1554888939
EHMT1
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs199564797
rs199564797
SELENON
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397517077
rs397517077
CBL
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs745886248
rs745886248
SELENON
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs80338758
rs80338758
MED12
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		T 0.700 CausalMutation CLINVAR

dbSNP: rs868064163
rs868064163
ACTL6A
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		A 0.700 CausalMutation CLINVAR