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: 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: 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: 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: 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: rs1060499999
rs1060499999
SBF2 ; SBF2-AS1
1 1.000 0.080 11 9787633 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1060500001
rs1060500001
SBF2 ; LOC101928008
1 1.000 0.080 11 9853539 splice donor variant C/T snv 0.700 0
dbSNP: rs1060503092
rs1060503092
NDRG1
1 1.000 0.080 8 133264546 splice donor variant C/T snv 7.0E-06 0.700 1.000 2 2003 2013
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: rs1198337036
rs1198337036
SH3TC2
1 1.000 0.080 5 149047861 splice donor variant C/T snv 8.0E-06 7.0E-06 0.700 0
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: rs121434403
rs121434403
MTMR2
2 0.925 0.080 11 95849841 stop gained C/A;T snv 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: rs1222150652
rs1222150652
SH3TC2
1 1.000 0.080 5 149008894 frameshift variant TCATAGCCTTC/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1270869520
rs1270869520
SBF2
1 1.000 0.080 11 10294049 frameshift variant GT/- del 7.0E-06 0.700 0
dbSNP: rs1301129751
rs1301129751
PRX
1 1.000 0.080 19 40395337 frameshift variant -/A ins 8.0E-06 7.0E-06 0.700 1.000 4 2004 2016
dbSNP: rs1358449243
rs1358449243
MTMR2
1 1.000 0.080 11 95861995 frameshift variant CA/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1393673267
rs1393673267
FGD4
1 1.000 0.080 12 32602315 frameshift variant C/- del 3.5E-05 0.700 0
dbSNP: rs1554120331
rs1554120331
SH3TC2
1 1.000 0.080 5 149009002 splice acceptor variant C/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1554121665
rs1554121665
SH3TC2
1 1.000 0.080 5 149027754 stop gained G/A snv 0.700 0
dbSNP: rs1554121691
rs1554121691
SH3TC2
1 1.000 0.080 5 149027863 frameshift variant CC/- delins 0.700 0
dbSNP: rs1554122560
rs1554122560
SH3TC2
1 1.000 0.080 5 149038491 splice acceptor variant C/T snv 0.700 1.000 1 2010 2010