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: rs1064795104
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 1.000 2 2013 2014