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: rs10917151
rs10917151
CDC42
3 0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs10953316
rs10953316
MUC17
1 1.000 0.040 7 101038481 synonymous variant A/C;G;T snv 8.0E-06; 0.64 0.010 1.000 1 2015 2015
dbSNP: rs10975519
rs10975519
IL33 ; LOC107987046
1 1.000 0.040 9 6253571 synonymous variant C/T snv 0.38 0.35 0.800 1.000 1 2013 2013
dbSNP: rs1104760
rs1104760
MUC4
1 1.000 0.040 3 195790450 missense variant G/A;T snv 0.78; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs11085835
rs11085835
CACNA1A
1 1.000 0.040 19 13221196 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11132055
rs11132055
LOC107986205
1 1.000 0.040 4 181401652 intergenic variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11245954
rs11245954
MUC2
1 1.000 0.040 11 1107170 non coding transcript exon variant A/G snv 6.7E-02 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs113850637
rs113850637 		1 1.000 0.040 3 104131556 intergenic variant C/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs11592737
rs11592737
CYP2C19
2 0.925 0.040 10 94843657 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1159327
rs1159327
ESR1
1 1.000 0.040 6 151726887 intron variant C/T snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs116175374
rs116175374
CAPN14
1 1.000 0.040 2 31202319 intron variant G/A snv 4.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs116250606
rs116250606
CALHM3
1 1.000 0.040 10 103473496 missense variant C/T snv 6.5E-06; 4.1E-03 2.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs11692361
rs11692361
MEIS1
1 1.000 0.040 2 66496567 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11977660
rs11977660
EGFR
1 1.000 0.040 7 55094643 intron variant T/C snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs12030576
rs12030576 		2 1.000 0.040 1 115274600 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1203495492
rs1203495492
KCNQ2
1 1.000 0.040 20 63408489 missense variant C/T snv 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs12037376
rs12037376
WNT4
3 0.925 0.040 1 22135618 intron variant G/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs12449465
rs12449465
OR1G1
1 1.000 0.040 17 3126260 downstream gene variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs12455952
rs12455952 		2 1.000 0.040 18 61173285 intergenic variant T/C;G snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs1250258
rs1250258
FN1 ; LOC105373868
3 1.000 0.040 2 215435462 intron variant C/T snv 0.79 0.700 1.000 1 2017 2017
dbSNP: rs138913144
rs138913144
LAMC3
1 1.000 0.040 9 131022553 intron variant ATTTATTT/-;ATTT;ATTTATTTATTT;ATTTATTTATTTATTT;ATTTATTTATTTATTTATTT delins 0.700 1.000 1 2017 2017
dbSNP: rs1410584323
rs1410584323
MUC16
1 1.000 0.040 19 8981098 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1432089
rs1432089 		1 1.000 0.040 4 170869637 intergenic variant C/T snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs144240142
rs144240142
MAP3K4
1 1.000 0.040 6 161081992 intron variant T/C snv 5.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs1447669065
rs1447669065
CD44
1 1.000 0.040 11 35176638 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015