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: rs1554122847
rs1554122847
SH3TC2
1 1.000 0.080 5 149042727 stop gained C/A snv 0.700 0
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: rs1554303800
rs1554303800
FIG4
1 1.000 0.080 6 109760316 frameshift variant A/- delins 0.700 0
dbSNP: rs1554309093
rs1554309093
FIG4
1 1.000 0.080 6 109792591 stop gained C/T snv 0.700 1.000 2 2014 2017
dbSNP: rs1555057316
rs1555057316
MTMR2
1 1.000 0.080 11 95838148 frameshift variant -/TA delins 0.700 0
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: 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: rs1561765311
rs1561765311
SH3TC2
1 1.000 0.080 5 149028209 frameshift variant AAAC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1561770798
rs1561770798
SH3TC2
1 1.000 0.080 5 149044640 splice acceptor variant T/C snv 0.700 0
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: 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: rs1565351898
rs1565351898
MTMR2
1 1.000 0.080 11 95850599 splice donor variant C/G snv 0.700 1.000 1 2000 2000
dbSNP: rs1568704829
rs1568704829
PRX
1 1.000 0.080 19 40395498 frameshift variant -/A delins 0.700 1.000 5 2004 2016
dbSNP: rs1568710514
rs1568710514
PRX
1 1.000 0.080 19 40398648 frameshift variant T/- delins 0.700 1.000 1 2002 2002
dbSNP: rs1569512576
rs1569512576
SBF1
1 1.000 0.080 22 50462446 frameshift variant CC/- del 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: 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: rs281865065
rs281865065
FGD4
2 0.925 0.080 12 32633547 splice acceptor variant A/G 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: rs574861276
rs574861276
PRX
1 1.000 0.080 19 40396962 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 2 2002 2017