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: rs140583554
rs140583554
OSGEP
2 0.925 14 20452066 missense variant C/T snv 2.4E-05 7.7E-05 0.700 1.000 2 2017 2017
dbSNP: rs1553693712
rs1553693712
BRPF1
2 1.000 3 9734167 frameshift variant TT/- delins 0.700 1.000 2 2017 2017
dbSNP: rs762904815
rs762904815
BRPF1
3 1.000 3 9744394 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 2017 2017
dbSNP: rs1114167891
rs1114167891
OGT
2 0.925 X 71555312 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1553353206
rs1553353206
WDR26 ; MIR4742
3 1.000 1 224398525 frameshift variant CATTTAACAA/- delins 0.700 1.000 1 2017 2017
dbSNP: rs746480833
rs746480833
CHRNB2 ; LOC107985206
2 1.000 1 154569536 missense variant C/T snv 4.0E-06; 1.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs1553417206
rs1553417206
EXOC6B
2 1.000 2 72465341 splice acceptor variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs886041081
rs886041081
SLC25A4
4 0.925 4 185144891 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs797044806
rs797044806
XYLT2
3 0.925 17 50354465 frameshift variant -/C delins 0.700 1.000 4 2015 2018
dbSNP: rs1366421988
rs1366421988
CLN8
2 1.000 8 1771146 missense variant G/A;T snv 4.0E-06 0.700 1.000 3 2015 2017
dbSNP: rs386834124
rs386834124
CLN8
4 0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 3 2015 2017
dbSNP: rs761621368
rs761621368
CLN8
3 1.000 8 1780408 frameshift variant C/- delins 4.0E-06 3.5E-05 0.700 1.000 3 2015 2017
dbSNP: rs777218310
rs777218310
ECHS1
4 0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04 0.700 1.000 14 2014 2018
dbSNP: rs1369501286
rs1369501286
DSCAM
1 1.000 21 40044201 stop gained G/A snv 4.0E-06 0.700 1.000 6 2014 2017
dbSNP: rs1437184398
rs1437184398
GPT2
4 0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06 0.700 1.000 5 2014 2018
dbSNP: rs1555922391
rs1555922391
USP9X
2 1.000 X 41151058 splice donor variant G/A snv 0.700 1.000 5 2014 2017
dbSNP: rs769391314
rs769391314
XYLT1
1 1.000 16 17109015 stop gained C/A;T snv 5.5E-06; 1.1E-05 0.700 1.000 5 2014 2017
dbSNP: rs1057519413
rs1057519413
RAD51
2 0.925 0.120 15 40729955 missense variant G/A snv 0.700 1.000 3 2014 2015
dbSNP: rs1556026984
rs1556026984
HPRT1
4 0.925 0.120 X 134475194 missense variant G/C snv 0.700 1.000 3 2014 2015
dbSNP: rs587777695
rs587777695
ZSWIM6
4 0.925 0.120 5 61544156 missense variant C/T snv 0.700 1.000 3 2014 2017
dbSNP: rs886039763
rs886039763
HNRNPH2 ; RPL36A-HNRNPH2
3 0.925 X 101412604 missense variant C/T snv 0.700 1.000 3 2014 2016
dbSNP: rs1382444181
rs1382444181
METTL23
2 1.000 17 76733070 frameshift variant G/- delins 8.3E-06 7.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs1462161137
rs1462161137
METTL23
3 1.000 17 76733042 frameshift variant -/A delins 7.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs587777644
rs587777644
METTL23
3 0.925 17 76733060 frameshift variant CACT/- delins 0.700 1.000 2 2014 2014
dbSNP: rs869320713
rs869320713
ZMYND11 ; LOC107984190
6 0.851 0.120 10 248370 missense variant G/A snv 0.700 1.000 1 2014 2014