Gene: TWIST2 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906973
rs387906973
TWIST2 ; LOC100287387
0.710 GeneticVariation BEFREE Recently, we have reported that two nonsense mutations (c.486C>T [Q119X] and c.324C>T [Q65X]) of the basic helix-loop-helix (bHLH) transcription factor TWIST2 cause Setleis Syndrome. 21801849

2011
dbSNP: rs387906974
rs387906974
TWIST2 ; LOC100287387
0.710 GeneticVariation BEFREE Recently, we have reported that two nonsense mutations (c.486C>T [Q119X] and c.324C>T [Q65X]) of the basic helix-loop-helix (bHLH) transcription factor TWIST2 cause Setleis Syndrome. 21801849

2011