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: rs1562505675
rs1562505675
HIVEP2
1 1.000 6 142771246 frameshift variant -/TGACTGTCCATGTGCATGATCTGTGGCTGGGC delins 0.700 0
dbSNP: rs761993070
rs761993070
HIVEP2
1 1.000 6 142759813 stop gained C/A;G;T snv 2.0E-05 0.700 0
dbSNP: rs869312841
rs869312841
HIVEP2
1 1.000 6 142771912 stop gained G/A snv 0.700 0
dbSNP: rs869312843
rs869312843
HIVEP2
1 1.000 6 142771882 stop gained C/A snv 0.700 0
dbSNP: rs869312844
rs869312844
HIVEP2
1 1.000 6 142761469 frameshift variant -/C delins 0.700 0
dbSNP: rs878853251
rs878853251
HIVEP2
1 1.000 6 142760551 frameshift variant C/- del 0.700 0
dbSNP: rs878853269
rs878853269
HIVEP2
1 1.000 6 142771183 stop gained G/A snv 0.700 0