Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131692330
rs1131692330 		1.000 5 907987 splice acceptor variant G/C snv
CUI: C4539839
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 		0.700 0
dbSNP: rs376882637
rs376882637 		0.882 0.160 5 914504 stop gained C/A;G;T snv
CUI: C4539839
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 		0.700 0