Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039230
rs886039230
MAP3K7
0.810 GeneticVariation BEFREE This report expands the clinical spectrum of FMD2 caused by the recurrent c.1454C > T [p.(Pro485Leu)] mutation in MAP3K7. 29660408

2018
dbSNP: rs886039230
rs886039230
MAP3K7
0.810 GeneticVariation UNIPROT Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733

2016
dbSNP: rs886039230
rs886039230
MAP3K7
A 0.810 CausalMutation CLINVAR

dbSNP: rs886039231
rs886039231
MAP3K7
0.700 GeneticVariation UNIPROT Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733

2016
dbSNP: rs886039232
rs886039232
MAP3K7
0.700 GeneticVariation UNIPROT Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733

2016
dbSNP: rs886039233
rs886039233
MAP3K7
0.700 GeneticVariation UNIPROT Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733

2016