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: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs138308105
rs138308105
CLDN16
7 0.925 0.200 3 190408323 missense variant G/A;C snv 6.8E-05 2.6E-04 0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1557551678
rs1557551678
CLDN19
9 0.882 0.160 1 42738421 missense variant C/A snv 0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
13 0.882 0.120 8 42437137 stop gained C/A snv 0.700 0