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 0.020 0.500 2 2013 2018
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
16 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 0.010 < 0.001 1 2015 2015
dbSNP: rs10038177
rs10038177
WDR36
3 0.925 0.040 5 111100751 intron variant C/T snv 0.53 0.54 0.010 1.000 1 2017 2017
dbSNP: rs10063949
rs10063949
SLC23A1
4 0.882 0.080 5 139383837 intron variant T/C snv 0.48 0.010 < 0.001 1 2011 2011
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs10120688
rs10120688
CDKN2B-AS1
7 0.807 0.080 9 22056500 intron variant G/A snv 0.50 0.030 1.000 3 2012 2014
dbSNP: rs10202118
rs10202118
LOC730100
1 1.000 0.040 2 51723186 intron variant C/T snv 0.67 0.020 1.000 2 2012 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2009 2019
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2003 2003
dbSNP: rs10451941
rs10451941
OPA1
3 0.882 0.160 3 193637313 intron variant T/A;C snv 0.42 0.010 < 0.001 1 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs10483727
rs10483727 		4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.100 0.917 12 2011 2019
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.060 0.833 6 2008 2015
dbSNP: rs104886478
rs104886478
ASB10
2 0.925 0.040 7 151181233 synonymous variant G/A snv 5.0E-04 3.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs1051993
rs1051993
AGER ; PBX2
1 1.000 0.040 6 32185657 3 prime UTR variant C/A snv 5.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2013 2013
dbSNP: rs1052990
rs1052990
CAV2
3 0.882 0.040 7 116508316 3 prime UTR variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 1.000 2 2013 2015
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2008 2008
dbSNP: rs1056837
rs1056837
CYP1B1
1 1.000 0.040 2 38071007 missense variant A/G;T snv 0.63 0.010 < 0.001 1 2015 2015
dbSNP: rs1057519378
rs1057519378
CARD10
1 1.000 0.040 22 37516037 missense variant C/A;T snv 4.4E-06; 8.7E-06 0.700 1.000 1 2016 2016
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.050 0.800 5 2011 2017
dbSNP: rs11125375
rs11125375
LOC730100
1 1.000 0.040 2 51725011 intron variant G/A snv 0.61 0.010 1.000 1 2012 2012
dbSNP: rs111698934
rs111698934
FNDC3B
1 1.000 0.040 3 172315221 intron variant C/G snv 5.7E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs11241095
rs11241095
WDR36
3 0.925 0.040 5 111103810 missense variant A/C;G snv 0.33 0.010 1.000 1 2017 2017