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: rs1555060614
rs1555060614
MTMR2
1 1.000 0.080 11 95849673 splice donor variant C/T snv 0.700 1.000 1 2000 2000
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: rs1561765311
rs1561765311
SH3TC2
1 1.000 0.080 5 149028209 frameshift variant AAAC/- delins 0.700 1.000 1 2015 2015
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: rs1568710514
rs1568710514
PRX
1 1.000 0.080 19 40398648 frameshift variant T/- delins 0.700 1.000 1 2002 2002
dbSNP: rs750712213
rs750712213
FIG4
1 1.000 0.080 6 109791478 frameshift variant CT/- delins 1.6E-05 2.1E-05 0.700 1.000 1 2013 2013
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: rs769410348
rs769410348
SH3TC2
1 1.000 0.080 5 149042693 splice donor variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2010 2010
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: 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: 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: 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: 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: rs121434403
rs121434403
MTMR2
2 0.925 0.080 11 95849841 stop gained C/A;T snv 0.700 0
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: 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: 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