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: 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: 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: 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: rs104894078
rs104894078
GDAP1
5 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs104894158
rs104894158
EGR2
5 0.851 0.080 10 62813835 missense variant A/T snv 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: rs80359890
rs80359890
SH3TC2
4 0.851 0.080 5 149042718 missense variant A/G snv 1.6E-03; 4.0E-06 2.0E-03 0.700 0
dbSNP: rs121908287
rs121908287
FIG4
3 0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03 0.700 1.000 5 2007 2014
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: rs764717219
rs764717219
FIG4
3 0.882 0.120 6 109738435 frameshift variant G/- delins 3.2E-05 1.4E-05 0.700 1.000 2 2007 2011
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: rs863224454
rs863224454
SH3TC2
2 0.925 0.080 5 149028145 missense variant AC/CT mnv 0.700 1.000 6 2003 2017
dbSNP: rs80338930
rs80338930
SH3TC2
2 0.925 0.080 5 149027090 missense variant T/A;C snv 2.0E-05 0.700 1.000 5 2006 2013
dbSNP: rs80338926
rs80338926
SH3TC2
2 0.925 0.080 5 149027760 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 4 2003 2011
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: 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: rs63749871
rs63749871
FGD4
2 0.925 0.080 12 32602217 missense variant T/C;G snv 4.0E-06 0.700 1.000 2 2007 2007
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: 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: rs121434403
rs121434403
MTMR2
2 0.925 0.080 11 95849841 stop gained C/A;T snv 0.700 0
dbSNP: rs281865060
rs281865060
GDAP1
2 0.925 0.080 8 74360173 missense variant T/C;G snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs281865065
rs281865065
FGD4
2 0.925 0.080 12 32633547 splice acceptor variant A/G snv 0.700 0
dbSNP: rs80338925
rs80338925
SH3TC2
2 0.925 0.080 5 149027763 missense variant C/T snv 2.4E-05 0.700 0
dbSNP: rs864622664
rs864622664
SH3TC2
2 0.925 0.080 5 149010294 frameshift variant C/- delins 7.0E-06 0.700 0
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