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: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs113993956
rs113993956
MYH14
3 1.000 19 50268255 missense variant G/A;T snv 6.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs119103263
rs119103263
MFN2
19 0.827 0.240 1 11992659 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs121918068
rs121918068
TTR
6 0.882 0.200 18 31592983 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs1330512770
rs1330512770
EGFR
2 7 55161592 missense variant G/A snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs1418474769
rs1418474769
GJC2
3 1.000 0.080 1 228157761 start lost G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs143473232
rs143473232
HARS1
3 1.000 5 140679789 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1555937122
rs1555937122
GJB1
4 0.925 0.080 X 71223973 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs17748074
rs17748074
DCC
2 18 52420925 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2016 2016
dbSNP: rs2242578
rs2242578
GLI1
2 12 57459370 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs281865128
rs281865128
MPZ
5 0.882 0.080 1 161306426 missense variant C/G;T snv 0.010 1.000 1 2019 2019
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 2001 2001
dbSNP: rs28937569
rs28937569
HSPB1
3 1.000 0.040 7 76304100 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs28939680
rs28939680
HSPB1
4 0.925 0.080 7 76303841 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3750898
rs3750898
DCLRE1A ; LOC107984271
2 10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 0.010 1.000 1 2018 2018
dbSNP: rs3811463
rs3811463
LIN28A
14 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs397515323
rs397515323
PDK3
7 0.851 0.080 X 24503479 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs587781262
rs587781262
PRPS1
6 0.882 0.240 X 107640938 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs587781263
rs587781263
PRPS1
5 0.925 0.240 X 107650000 missense variant G/T snv 0.010 1.000 1 2015 2015