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: rs11079867
rs11079867 		1 17 49277423 intron variant A/C snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs11089328
rs11089328
DGCR8
2 22 20092080 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs11121704
rs11121704
MTOR
3 1 11233902 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11160608
rs11160608
MEG3
2 14 100846756 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs111853599
rs111853599
CENPE
2 4 103196214 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs11267092
rs11267092
F2R
2 5 76715788 intron variant -/GGCCGCGGGAAGC;GGCCGCGGGAAGCGGCCGCGGGAAGC delins 0.010 1.000 1 2013 2013
dbSNP: rs112690925
rs112690925
HRAS ; LRRC56
2 11 535098 intron variant T/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs11327
rs11327
TRBC2
1 7 142802725 3 prime UTR variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11544193
rs11544193
GSPT1 ; LOC112268177
2 16 11915447 missense variant C/A snv 0.48 0.43 0.010 < 0.001 1 2005 2005
dbSNP: rs11575899
rs11575899
CYP19A1 ; MIR4713HG
2 15 51227749 intron variant AGA/-;AGAAGA delins 0.010 1.000 1 2016 2016
dbSNP: rs11602836
rs11602836
LINC02718
1 11 23211338 intergenic variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11640939
rs11640939
SEC14L5
1 16 4982458 intron variant C/T snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs11641901
rs11641901
SEC14L5
1 16 4979496 intron variant A/G snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs11655704
rs11655704
LOC102724596
1 17 49370810 non coding transcript exon variant T/C snv 0.11 0.30 0.700 1.000 1 2017 2017
dbSNP: rs11686241
rs11686241
SMARCAL1
1 2 216433482 intron variant A/G snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs1171303257
rs1171303257
ALB
2 4 73410405 missense variant G/C snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1171916811
rs1171916811
LPA
2 6 160633826 missense variant C/T snv 1.7E-05 0.010 1.000 1 2006 2006
dbSNP: rs117889746
rs117889746
PZP ; KLRG1
2 12 9181030 stop gained G/A snv 6.6E-03 2.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs11828289
rs11828289
LINC02718
1 11 23174695 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11861717
rs11861717
PPL
1 16 4941276 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11864122
rs11864122
SEC14L5
1 16 4973520 intron variant C/T snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs1189209220
rs1189209220
PTPRC
2 1 198706883 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1190488467
rs1190488467
PTPN13
2 4 86701433 missense variant A/C snv 8.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs11911509
rs11911509
KCNE1
1 21 34469442 intron variant C/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1196333
rs1196333
MDM2
2 12 68808835 intron variant T/A snv 4.8E-02 0.010 1.000 1 2012 2012