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: rs1514687
rs1514687
TPO
5 1.000 2 1434216 intron variant T/G snv 0.86 0.700 1.000 1 2014 2014
dbSNP: rs7568498
rs7568498
TANK
5 1.000 2 161172602 intron variant T/G snv 0.11 0.700 1.000 1 2014 2014
dbSNP: rs371856018
rs371856018
MPZ
5 0.882 0.120 1 161307376 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs116840817
rs116840817
GJB1
3 0.925 0.080 X 71223852 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs200092345
rs200092345
CSGALNACT1
2 8 19458576 missense variant T/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs58982919
rs58982919
NEFL
10 0.790 0.080 8 24956223 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs7244245
rs7244245 		5 1.000 18 8931654 intergenic variant T/C snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs11154178
rs11154178
TRDN ; LOC105377982
7 0.807 0.240 6 123540174 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs121913602
rs121913602
MPZ
5 0.851 0.120 1 161307308 missense variant T/A snv 0.010 1.000 1 1999 1999
dbSNP: rs1060503021
rs1060503021
HSPB1
3 0.925 0.080 7 76304077 stop gained GC/CT mnv 0.010 1.000 1 2012 2012
dbSNP: rs10555080
rs10555080
LINC02841
2 1.000 0.080 19 31552265 intron variant GACT/-;GACTGACT delins 0.31 0.700 1.000 1 2019 2019
dbSNP: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.030 1.000 3 2010 2019
dbSNP: rs10509586
rs10509586
LINC01374
5 1.000 10 89981680 intron variant G/T snv 7.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs41268673
rs41268673
SCN9A ; SCN1A-AS1
1 2 166284599 missense variant G/C;T snv 4.0E-06; 2.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs4463516
rs4463516 		3 1.000 0.120 9 32867483 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10636
rs10636
MT2A
7 0.851 0.160 16 56609431 3 prime UTR variant G/C snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs11085721
rs11085721
DNMT1
2 1.000 0.120 19 10207300 intron variant G/C snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs137852643
rs137852643
GARS1
3 0.925 0.080 7 30609729 missense variant G/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2009 2018
dbSNP: rs770272088
rs770272088
HSPB1
4 0.882 0.080 7 76302962 missense variant G/A;C;T snv 6.8E-06 0.010 1.000 1 2013 2013
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 1.000 12 2008 2020
dbSNP: rs1393404971
rs1393404971
HSPB1
2 1.000 0.040 7 76302833 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs209709
rs209709 		1 1 22551320 intergenic variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs28445017
rs28445017
LTA ; LOC100287329
1 6 31559979 downstream gene variant G/A;C snv 0.010 < 0.001 1 2016 2016