Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434590
rs121434590
MYH8 ; MYHAS
0.882 0.240 17 10406924 missense variant C/T snv 1.4E-05
CUI: C0265226
Disease: Hecht syndrome (disorder)
Hecht syndrome (disorder) 		0.820 1.000 0 2004 2017