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: 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
dbSNP: rs1554122847
rs1554122847
SH3TC2
1 1.000 0.080 5 149042727 stop gained C/A snv 0.700 0
dbSNP: rs1554303800
rs1554303800
FIG4
1 1.000 0.080 6 109760316 frameshift variant A/- delins 0.700 0
dbSNP: rs1555057316
rs1555057316
MTMR2
1 1.000 0.080 11 95838148 frameshift variant -/TA delins 0.700 0
dbSNP: rs1555223595
rs1555223595
FGD4
1 1.000 0.080 12 32633650 frameshift variant CA/- delins 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: rs1561770798
rs1561770798
SH3TC2
1 1.000 0.080 5 149044640 splice acceptor variant T/C 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: rs1565115957
rs1565115957
SBF2
1 1.000 0.080 11 10000952 frameshift variant CAATAATGAAAGGCGTTGGGGAACTTAGAACTTCCAGTAGCTGAGCCGGGAGAATAGGGATATAAGGATA/- del 0.700 0
dbSNP: rs1569512576
rs1569512576
SBF1
1 1.000 0.080 22 50462446 frameshift variant CC/- del 0.700 0
dbSNP: rs281865063
rs281865063
FGD4
1 1.000 0.080 12 32611270 missense variant G/A snv 0.700 0
dbSNP: rs281865064
rs281865064
FGD4
1 1.000 0.080 12 32625716 coding sequence variant G/H 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: rs770043095
rs770043095
FIG4
1 1.000 0.080 6 109762188 frameshift variant -/T delins 2.0E-05 2.1E-05 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
dbSNP: rs863224516
rs863224516
MTMR2
1 1.000 0.080 11 95847859 frameshift variant T/- delins 0.700 0