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: rs1024095026
rs1024095026
ABCC9
1 12 21887879 stop gained G/A snv 1.2E-05 0.700 1.000 1 2012 2012
dbSNP: rs1060500235
rs1060500235
TNNT2
1 1 201365657 missense variant T/C;G snv 0.010 1.000 1 2017 2017
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: rs1393142163
rs1393142163
CTNNA3
2 10 67521867 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1442549853
rs1442549853
MYO15A
1 17 18162600 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1786814
rs1786814
CELF4
1 18 37497065 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs202080237
rs202080237
MYO7A
1 11 77162134 missense variant G/A snv 1.9E-04 1.0E-04 0.010 1.000 1 2008 2008
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: rs2232228
rs2232228
HAS3
1 16 69109674 synonymous variant A/C;G snv 8.1E-06; 0.40 0.010 1.000 1 2014 2014
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: rs371855540
rs371855540
MYH7 ; MHRT
2 14 23415095 missense variant C/T snv 2.0E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs4746172
rs4746172
VCL
3 10 74096084 intron variant C/T snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs730880092
rs730880092
DSP
1 6 7583572 frameshift variant A/- del 5.2E-05 2.8E-05 0.700 1.000 1 2010 2010
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: rs746365549
rs746365549
TTN
2 2 178782573 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs748746951
rs748746951
MYBPC3
1 11 47347857 missense variant G/A;T snv 1.7E-05 0.010 1.000 1 2019 2019
dbSNP: rs760185784
rs760185784
DSC2
2 18 31089533 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs768021558
rs768021558
HDAC3
1 5 141625741 missense variant C/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs769139957
rs769139957
ALPK3
1 15 84840691 frameshift variant C/-;CC delins 0.700 1.000 1 2017 2017
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: rs886037845
rs886037845
TOR1AIP1
1 1 179917932 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs886039204
rs886039204
MYH7
1 14 23423966 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017