Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338831
rs80338831
MYH9
0.020 GeneticVariation BEFREE Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 12649151

2003
dbSNP: rs80338831
rs80338831
MYH9
0.020 GeneticVariation BEFREE We studied a large FTNS family in which 10 components carried a missense mutation of MYH9 determining the D1424H substitution. 12500226

2003
dbSNP: rs80338826
rs80338826
MYH9
0.010 GeneticVariation BEFREE On the basis of predictions from molecular modeling of the X-ray crystallographic structure of chick smooth muscle myosin, the mutated thiol reactive group of R702C may lead to intermolecular disulfide bridges, with the consequent formation of the inclusions typical of FTNS. 11935325

2002