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: rs114638163
rs114638163
MIPEP
10 0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121908989
rs121908989
PRKAG2
4 0.882 0.080 7 151564199 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912557
rs121912557
MYO6
4 0.882 0.120 6 75857198 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121912560
rs121912560
MYO6
3 0.925 0.160 6 75841299 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
4 0.882 0.080 15 34791163 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs121912677
rs121912677
ACTC1 ; LOC101928174
2 1.000 0.080 15 34793326 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121912683
rs121912683
SLC25A4
9 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912998
rs121912998
DSP ; LOC101928076
3 1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs121917776
rs121917776
VCL
5 0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121918082
rs121918082
TTR
6 0.827 0.280 18 31595244 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs121918086
rs121918086
TTR
3 1.000 0.120 18 31595160 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121918090
rs121918090
TTR
8 0.790 0.240 18 31593026 missense variant G/C snv 0.010 1.000 1 2002 2002
dbSNP: rs121918093
rs121918093
TTR
4 0.882 0.200 18 31592944 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121918097
rs121918097
TTR
10 0.790 0.280 18 31595137 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs121918312
rs121918312
BAG3
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121964856
rs121964856
TNNT2
8 0.807 0.120 1 201365297 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs12212067
rs12212067
FOXO3
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs12582717
rs12582717
SLCO1B1
1 12 21143872 intron variant C/G snv 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs1286964261
rs1286964261
BANF1 ; EIF1AD
1 11 66003356 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1334828551
rs1334828551
MUL1
2 1 20500800 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1343372308
rs1343372308
MYH7 ; MHRT
2 14 23413792 missense variant C/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs137854607
rs137854607
SCN5A
5 0.882 0.120 3 38554309 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
11 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.010 1.000 1 2019 2019