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: rs1555789140
rs1555789140
SNX5 ; OVOL2 ; MGME1
4 0.882 0.120 20 17970217 frameshift variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs587776943
rs587776943
SNX5 ; OVOL2 ; MGME1
1 1.000 20 17970315 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs587776944
rs587776944
OVOL2 ; MGME1
1 1.000 20 17975870 missense variant A/G snv 4.0E-05 0.700 0