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