Disease: FRASER 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: rs397514485
rs397514485 		1.000 12 66392676 splice donor variant C/G snv
CUI: C4540040
Disease: FRASER SYNDROME 3
FRASER SYNDROME 3 		0.700 0
dbSNP: rs397514486
rs397514486 		1.000 12 66455423 frameshift variant CTTT/- delins
CUI: C4540040
Disease: FRASER SYNDROME 3
FRASER SYNDROME 3 		0.700 0