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: C1837245
Disease: Carney Complex Variant
Carney Complex Variant 		0.800 1.000 0 2004 2004