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: rs587777027
rs587777027
PIGT ; LOC107985405
1 1.000 20 45419348 missense variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs200790673
rs200790673
PIGT ; LOC107985405
1 1.000 20 45419293 splice acceptor variant A/G snv 5.2E-05 6.3E-05 0.700 1.000 2 2014 2016
dbSNP: rs527236031
rs527236031
PIGT ; MIR6812
5 0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05 0.700 1.000 2 2014 2016
dbSNP: rs1277383877
rs1277383877
PIGT
3 0.925 20 45421428 missense variant G/T snv 7.0E-06 0.700 0
dbSNP: rs527236032
rs527236032
PIGT
1 1.000 20 45420578 frameshift variant -/T ins 0.700 0
dbSNP: rs571714796
rs571714796
PIGT
1 1.000 20 45421445 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs751861982
rs751861982
PIGT
1 1.000 20 45420577 frameshift variant -/C delins 3.6E-05 4.9E-05 0.700 0
dbSNP: rs756632799
rs756632799
PIGT ; LOC107985405
5 0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs763009552
rs763009552
PIGT ; LOC107985405
1 1.000 20 45416213 frameshift variant C/- del 0.700 0
dbSNP: rs771157170
rs771157170
PIGT ; MIR6812 ; LOC105372631
1 1.000 20 45425671 missense variant G/A;T snv 9.9E-05 0.700 0
dbSNP: rs774753616
rs774753616
PIGT ; LOC107985405
3 1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0