Source: CURATED ×
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: rs2294693
rs2294693
OARD1 ; UNC5CL
1 1.000 0.080 6 41037763 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs9841504
rs9841504
ZBTB20
3 0.827 0.120 3 114643917 intron variant C/G;T snv 0.720 0.667 1 2011 2016
dbSNP: rs1108143
rs1108143 		1 1.000 0.080 2 234557214 regulatory region variant A/G snv 8.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs7712641
rs7712641
LINC02161
1 1.000 0.080 5 89607147 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs80142782
rs80142782
ASH1L
1 1.000 0.080 1 155515236 intron variant T/C snv 2.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs4072037
rs4072037
MUC1
7 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.800 1.000 4 2010 2018
dbSNP: rs13361707
rs13361707
PRKAA1
3 0.882 0.120 5 40791782 intron variant C/T snv 0.31 0.780 1.000 3 2011 2018
dbSNP: rs10074991
rs10074991
PRKAA1
3 0.851 0.120 5 40790449 intron variant G/A snv 0.31 0.720 1.000 1 2014 2018
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs2376549
rs2376549
DEFB121
1 0.925 0.120 20 31411284 intron variant C/T snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs6490061
rs6490061
CUX2
1 0.925 0.120 12 111335541 intron variant T/C snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs7849280
rs7849280
ABO
1 1.000 0.080 9 133251249 non coding transcript exon variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs746481984
rs746481984
CDH1
3 0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06 0.720 1.000 0 2016 2018
dbSNP: rs2294008
rs2294008
PSCA ; JRK
7 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.800 0.971 3 2009 2019
dbSNP: rs760077
rs760077
MTX1 ; THBS3
7 0.925 0.120 1 155208991 missense variant T/A snv 0.36 0.700 1.000 2 2015 2020
dbSNP: rs10029005
rs10029005
LINC02516
1 1.000 0.080 4 124530209 intron variant G/A snv 0.40 0.700 1.000 1 2020 2020
dbSNP: rs10509671
rs10509671
PLCE1
1 1.000 0.080 10 94309297 intron variant T/G snv 0.24 0.700 1.000 1 2020 2020
dbSNP: rs6897169
rs6897169
PTGER4 ; TTC33
1 1.000 0.080 5 40726036 intron variant C/A;T snv 0.24 0.700 1.000 1 2020 2020
dbSNP: rs7624041
rs7624041 		1 1.000 0.080 3 94389819 intergenic variant G/A snv 0.89 0.700 1.000 1 2020 2020