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: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.010 1.000 1 2019 2019
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: rs1286964261
rs1286964261
BANF1 ; EIF1AD
1 11 66003356 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
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
dbSNP: rs200484060
rs200484060
DSG2
4 1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs202238194
rs202238194
TNNI3K ; FPGT-TNNI3K ; LRRC53
2 1.000 1 74492217 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs2043055
rs2043055
IL18
3 0.925 0.080 11 112160901 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2070818
rs2070818
EMD
1 X 154380798 missense variant G/C snv 4.6E-04 2.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs35049558
rs35049558
MYL2
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs369566535
rs369566535
AARS2 ; TMEM151B
1 6 44304659 missense variant G/A;C snv 3.6E-05; 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs397517404
rs397517404
DSC2
3 0.925 0.080 18 31086694 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs41518645
rs41518645
CYTB ; ND6
3 0.925 0.200 MT 15257 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs63750743
rs63750743
TMEM43
4 0.925 0.080 3 14141665 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs745743737
rs745743737
CAVIN4
1 9 100585774 missense variant C/G;T snv 8.0E-06; 3.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs748746951
rs748746951
MYBPC3
1 11 47347857 missense variant G/A;T snv 1.7E-05 0.010 1.000 1 2019 2019
dbSNP: rs768021558
rs768021558
HDAC3
1 5 141625741 missense variant C/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs782222974
rs782222974
EMD
1 X 154379710 stop gained G/A;T snv 2.3E-05; 1.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.020 1.000 2 2018 2020
dbSNP: rs104894204
rs104894204
CSRP3
4 0.882 0.040 11 19188245 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1057518422
rs1057518422
TAB2
7 0.851 0.240 6 149378954 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1412710023
rs1412710023
MYBPC3
3 0.925 0.040 11 47343549 missense variant T/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs150815925
rs150815925
MYH6 ; MIR208A
2 1.000 0.040 14 23388321 missense variant C/T snv 4.0E-06; 3.9E-04 4.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs200260229
rs200260229
MYH6
2 1.000 0.040 14 23384530 missense variant C/A;T snv 4.0E-06; 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs200536955
rs200536955
HSPB6 ; PROSER3
3 0.925 0.040 19 35756980 missense variant G/A;T snv 7.0E-04 0.010 1.000 1 2018 2018