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: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.010 1.000 1 2003 2003
dbSNP: rs391745
rs391745 		3 0.925 0.080 X 97839482 intergenic variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs471979
rs471979
NLRP5
3 0.925 0.080 19 56027610 missense variant G/C snv 0.13 9.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs483352809
rs483352809
TUBB4A
5 0.882 0.120 19 6495754 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs58124832
rs58124832
CACNA1H
3 0.925 0.080 16 1218376 missense variant G/A;T snv 5.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs6162
rs6162
CYP17A1
3 0.925 0.080 10 102837224 synonymous variant G/A snv 0.42 0.40 0.010 1.000 1 2013 2013
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2007 2007
dbSNP: rs7201637
rs7201637
HSD17B2
2 1.000 16 82081670 intron variant T/A snv 9.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs74315409
rs74315409
PRNP
13 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs774994509
rs774994509
SOD1
5 0.851 0.080 21 31667296 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs775040765
rs775040765
BRAF
2 1.000 7 140800366 missense variant T/C snv 8.0E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2005 2005
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs877610
rs877610
TRPV1
3 1.000 17 3572196 synonymous variant C/T snv 4.6E-02 7.5E-02 0.010 1.000 1 2013 2013