Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs794729668
rs794729668
FUZ ; MED25
2 0.925 0.160 19 49818457 missense variant A/G snv 0.800 0
dbSNP: rs1223073957
rs1223073957
MED25
12 0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs776291104
rs776291104
MED25
12 0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 0.700 0