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: rs1568704829
rs1568704829
PRX
1 1.000 0.080 19 40395498 frameshift variant -/A delins 0.700 1.000 5 2004 2016
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: rs772320287
rs772320287
FIG4
1 1.000 0.080 6 109766807 frameshift variant -/A delins 8.0E-06 7.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs770043095
rs770043095
FIG4
1 1.000 0.080 6 109762188 frameshift variant -/T delins 2.0E-05 2.1E-05 0.700 0
dbSNP: rs1555057316
rs1555057316
MTMR2
1 1.000 0.080 11 95838148 frameshift variant -/TA delins 0.700 0
dbSNP: rs1554303800
rs1554303800
FIG4
1 1.000 0.080 6 109760316 frameshift variant A/- delins 0.700 0
dbSNP: rs1555061026
rs1555061026
MTMR2
1 1.000 0.080 11 95850598 splice donor variant A/C snv 0.700 1.000 1 2000 2000
dbSNP: rs1561764735
rs1561764735
SH3TC2
1 1.000 0.080 5 149027314 stop gained A/C snv 0.700 0
dbSNP: rs773554464
rs773554464
SH3TC2
1 1.000 0.080 5 149044531 splice donor variant A/G snv 4.0E-06 0.700 1.000 2 2010 2016
dbSNP: rs1554300952
rs1554300952
FIG4
1 1.000 0.080 6 109735148 splice acceptor variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs281865065
rs281865065
FGD4
2 0.925 0.080 12 32633547 splice acceptor variant A/G snv 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: 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: rs104894158
rs104894158
EGR2
5 0.851 0.080 10 62813835 missense variant A/T snv 0.700 0
dbSNP: rs1561765311
rs1561765311
SH3TC2
1 1.000 0.080 5 149028209 frameshift variant AAAC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863224454
rs863224454
SH3TC2
2 0.925 0.080 5 149028145 missense variant AC/CT mnv 0.700 1.000 6 2003 2017
dbSNP: rs1393673267
rs1393673267
FGD4
1 1.000 0.080 12 32602315 frameshift variant C/- del 3.5E-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: rs1554120331
rs1554120331
SH3TC2
1 1.000 0.080 5 149009002 splice acceptor variant C/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1554122847
rs1554122847
SH3TC2
1 1.000 0.080 5 149042727 stop gained C/A snv 0.700 0
dbSNP: rs121434403
rs121434403
MTMR2
2 0.925 0.080 11 95849841 stop gained C/A;T snv 0.700 0
dbSNP: rs1565351898
rs1565351898
MTMR2
1 1.000 0.080 11 95850599 splice donor variant C/G snv 0.700 1.000 1 2000 2000
dbSNP: rs1564872328
rs1564872328
SBF2 ; SBF2-AS1
1 1.000 0.080 11 9807999 splice donor variant C/T snv 0.700 1.000 3 2003 2014
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: rs1554309093
rs1554309093
FIG4
1 1.000 0.080 6 109792591 stop gained C/T snv 0.700 1.000 2 2014 2017