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: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
16 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 0.010 1.000 1 2015 2015
dbSNP: rs10035650
rs10035650
KIAA0825
1 5 94600780 intron variant A/G snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs1005464
rs1005464
BMP2
5 0.882 0.040 20 6775501 intron variant G/A snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.020 1.000 2 2013 2019
dbSNP: rs10074991
rs10074991
PRKAA1
7 0.851 0.120 5 40790449 intron variant G/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs10109984
rs10109984
PRKDC
4 0.925 0.080 8 47891114 intron variant T/C snv 0.54 0.010 < 0.001 1 2013 2013
dbSNP: rs1012049
rs1012049
PTPRK
2 6 128209162 intron variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs1012477
rs1012477
PER3
8 0.827 0.160 1 7798075 intron variant G/C snv 0.16 0.020 0.500 2 2015 2017
dbSNP: rs10131
rs10131
LIG4
3 1.000 0.040 13 108207498 3 prime UTR variant C/T snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs10132552
rs10132552
MEG3
3 1.000 0.040 14 100834675 non coding transcript exon variant T/C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs10138053
rs10138053 		1 14 51148434 intergenic variant T/C snv 0.74 0.700 1.000 1 2017 2017
dbSNP: rs1015213
rs1015213 		6 0.851 0.040 8 51974981 intron variant C/T snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs10160246
rs10160246
LOC105376591
1 11 23153770 upstream gene variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1016343
rs1016343
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
8 0.807 0.240 8 127081052 non coding transcript exon variant C/T snv 0.20 0.030 1.000 3 2017 2018
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10175368
rs10175368
CYP1B1 ; CYP1B1-AS1
4 0.925 0.080 2 38080719 intron variant C/T snv 0.23 0.010 < 0.001 1 2018 2018
dbSNP: rs1018379423
rs1018379423
EPHB2
4 1 22907986 missense variant G/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs1019340046
rs1019340046
TP53
5 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs10203853
rs10203853
MROH2A
5 1.000 0.080 2 233778772 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10204525
rs10204525
PDCD1
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.020 0.500 2 2014 2016
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs10248565
rs10248565
HDAC9
3 1.000 0.040 7 18935100 intron variant T/G snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs10272859
rs10272859
CDK14
4 0.925 0.120 7 90689160 intron variant G/C snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs10273639
rs10273639
PRSS1
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.700 1.000 1 2017 2017