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: rs1393142163
rs1393142163
CTNNA3
2 10 67521867 missense variant T/C snv 0.010 1.000 1 2015 2015
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: rs143978652
rs143978652
MYH6
6 0.882 0.080 14 23393437 missense variant C/A;T snv 9.3E-04; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1442549853
rs1442549853
MYO15A
1 17 18162600 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs144983062
rs144983062
ITGA7
2 1.000 0.080 12 55693209 missense variant C/T snv 4.3E-03 3.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs1465957886
rs1465957886
SI
2 1.000 0.120 3 165046930 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs147435491
rs147435491
SARDH
2 1.000 0.080 9 133730099 missense variant C/T snv 6.4E-05 7.0E-05 0.010 1.000 1 2015 2015
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: rs151266052
rs151266052
SDHA
3 0.925 0.120 5 240448 missense variant C/T snv 6.0E-04 2.4E-03 0.010 1.000 1 2012 2012
dbSNP: rs1786814
rs1786814
CELF4
1 18 37497065 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1799821
rs1799821
CPT2
8 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 1992 1992
dbSNP: rs1799822
rs1799822
CPT2
4 0.925 0.080 1 53213557 missense variant A/G snv 0.16 0.15 0.010 1.000 1 1992 1992
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 1998 1998
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs199476301
rs199476301
TPM1
6 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs199865688
rs199865688
MYBPC3
4 0.925 0.080 11 47337496 missense variant C/T snv 1.5E-03 1.2E-03 0.010 1.000 1 2011 2011
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: 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: 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
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: rs202101384
rs202101384
SDHB
6 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.010 1.000 1 2012 2012
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: rs202247814
rs202247814
PCCA
2 1.000 0.080 13 100155090 missense variant G/A snv 0.010 1.000 1 2013 2013
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