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: rs104894715
rs104894715
PRX
1 1.000 0.080 19 40397250 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 5 2001 2016
dbSNP: rs80338934
rs80338934
SH3TC2
4 0.882 0.080 5 149010272 stop gained G/A snv 4.0E-05 3.5E-05 0.710 1.000 5 2005 2016
dbSNP: rs80338931
rs80338931
SH3TC2
2 0.925 0.080 5 149027022 stop gained G/A snv 4.4E-05 2.8E-05 0.700 1.000 3 2006 2015
dbSNP: rs104894708
rs104894708
PRX
5 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.700 1.000 2 2004 2004
dbSNP: rs104894714
rs104894714
PRX
2 0.925 0.080 19 40395495 stop gained G/A snv 3.2E-05 0.700 1.000 2 2001 2004
dbSNP: rs1554309093
rs1554309093
FIG4
1 1.000 0.080 6 109792591 stop gained C/T snv 0.700 1.000 2 2014 2017
dbSNP: rs574861276
rs574861276
PRX
1 1.000 0.080 19 40396962 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 2 2002 2017
dbSNP: rs104894707
rs104894707
PRX
4 0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 0.700 1.000 1 2002 2002
dbSNP: rs121434402
rs121434402
MTMR2
2 0.925 0.080 11 95845063 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs752192677
rs752192677
PRX
1 1.000 0.080 19 40398770 stop gained G/A;C snv 8.1E-06; 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs80338933
rs80338933
SH3TC2
9 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 1.000 1 2008 2008
dbSNP: rs104894077
rs104894077
GDAP1
8 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.700 0
dbSNP: rs118203974
rs118203974
FGD4
2 0.925 0.080 12 32601410 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs119483085
rs119483085
NDRG1
5 0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs121434403
rs121434403
MTMR2
2 0.925 0.080 11 95849841 stop gained C/A;T snv 0.700 0
dbSNP: rs1554121665
rs1554121665
SH3TC2
1 1.000 0.080 5 149027754 stop gained G/A snv 0.700 0
dbSNP: rs1554122847
rs1554122847
SH3TC2
1 1.000 0.080 5 149042727 stop gained C/A snv 0.700 0
dbSNP: rs1561764735
rs1561764735
SH3TC2
1 1.000 0.080 5 149027314 stop gained A/C snv 0.700 0
dbSNP: rs1561764925
rs1561764925
SH3TC2
1 1.000 0.080 5 149027586 stop gained G/A snv 0.700 0
dbSNP: rs1564923441
rs1564923441
SBF2 ; LOC101928008
1 1.000 0.080 11 9858375 stop gained G/A snv 0.700 0
dbSNP: rs370115218
rs370115218
SH3TC2
1 1.000 0.080 5 149012634 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs757563721
rs757563721
MTMR2
1 1.000 0.080 11 95849835 stop gained G/A;T snv 0.700 0
dbSNP: rs761972717
rs761972717
SH3TC2
1 1.000 0.080 5 149006960 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs774667470
rs774667470
SBF2
1 1.000 0.080 11 9832350 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs778377449
rs778377449
FGD4
1 1.000 0.080 12 32625747 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0