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: rs12524865
rs12524865
TARID
1 1.000 0.040 6 133875536 intron variant C/A snv 0.34 0.800 1.000 2 2011 2012
dbSNP: rs2119289
rs2119289
FIGN
1 1.000 0.040 2 163641436 intron variant C/A;G;T snv 0.020 1.000 2 2017 2017
dbSNP: rs374644
rs374644 		1 1.000 0.040 1 225918985 intron variant G/T snv 0.020 0.500 2 2018 2019
dbSNP: rs9366637
rs9366637
HFE ; LOC108783645
1 1.000 0.040 6 26088870 intron variant C/T snv 0.10 0.020 0.500 2 2011 2013
dbSNP: rs10218795
rs10218795
HJV
1 1.000 0.040 1 146018957 intron variant G/A snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs10235849
rs10235849
TBX20
1 1.000 0.040 7 35255752 upstream gene variant T/A snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1042620356
rs1042620356
GSTO1
1 1.000 0.040 10 104259596 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs10431335
rs10431335 		1 1.000 0.040 12 128194523 upstream gene variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10484404
rs10484404
ZNF165 ; ZSCAN16-AS1
1 1.000 0.040 6 28087717 intron variant C/T snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1049007
rs1049007
BMP2
1 1.000 0.040 20 6770387 synonymous variant A/C;G snv 0.67 0.010 < 0.001 1 2016 2016
dbSNP: rs1050993
rs1050993
MTR
1 1.000 0.040 1 236899005 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10514610
rs10514610
IRF8
1 1.000 0.040 16 85908569 intron variant G/A;C snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs1055061
rs1055061
HOMEZ
1 1.000 0.040 14 23275723 missense variant C/T snv 7.0E-02; 4.1E-06 9.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs1061160
rs1061160
EPRS1
1 1.000 0.040 1 219981426 synonymous variant C/T snv 0.35 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1061248
rs1061248
EPRS1
1 1.000 0.040 1 219968681 3 prime UTR variant C/T snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs10744182
rs10744182
SCARB1
1 1.000 0.040 12 124833036 intron variant C/T snv 0.49 0.010 < 0.001 1 2017 2017
dbSNP: rs10757275
rs10757275
CDKN2B-AS1
1 1.000 0.040 9 22106226 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10847434
rs10847434 		1 1.000 0.040 12 127676248 intergenic variant C/T snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs10849917
rs10849917
MYL2
1 1.000 0.040 12 110919270 intron variant T/A snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs10858300
rs10858300 		1 1.000 0.040 9 134950654 intergenic variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs10947460
rs10947460
LOC105375027
1 1.000 0.040 6 33860457 intergenic variant G/A snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs10947463
rs10947463
LINC01016
1 1.000 0.040 6 33879300 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10953541
rs10953541
BCAP29
1 1.000 0.040 7 107604100 intron variant C/T snv 0.17 0.800 1.000 1 2011 2011
dbSNP: rs10980451
rs10980451
SVEP1
1 1.000 0.040 9 110569988 intron variant C/T snv 1.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs11066132
rs11066132
NAA25
1 1.000 0.040 12 112030402 intron variant C/T snv 5.8E-03 0.700 1.000 1 2012 2012