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: rs561901401
rs561901401
MUC2 ; LOC107987157
2 1.000 0.040 11 1074959 non coding transcript exon variant G/C;T snv 1.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs745428980
rs745428980
MUC2
2 1.000 0.040 11 1075743 non coding transcript exon variant G/A;T snv 8.2E-06; 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs752427294
rs752427294
MARCKSL1
2 1.000 0.040 1 32335976 missense variant C/G snv 1.0E-05 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs143137713
rs143137713
GYG1
3 0.925 3 148996462 missense variant G/C snv 1.0E-03 1.1E-03 0.020 1.000 2 2017 2019
dbSNP: rs104894724
rs104894724
TNNI3
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1060500235
rs1060500235
TNNT2
1 1 201365657 missense variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1343372308
rs1343372308
MYH7 ; MHRT
2 14 23413792 missense variant C/G snv 7.0E-06 0.010 1.000 1 2017 2017
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: rs501192
rs501192
CASP1
3 0.925 0.200 11 105029658 splice region variant C/T snv 0.17 0.15 0.010 1.000 1 2017 2017
dbSNP: rs769139957
rs769139957
ALPK3
1 15 84840691 frameshift variant C/-;CC delins 0.700 1.000 1 2017 2017
dbSNP: rs774870551
rs774870551
VCL
3 0.925 0.160 10 74070712 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs886039204
rs886039204
MYH7
1 14 23423966 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs397516373
rs397516373
TPM1
4 0.925 0.080 15 63059663 missense variant G/A snv 0.700 1.000 5 2016 2018
dbSNP: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
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: 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: 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: rs1786814
rs1786814
CELF4
1 18 37497065 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs267607554
rs267607554
LMNA
3 1.000 0.080 1 156135925 stop gained C/T snv 0.010 1.000 1 2016 2016
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: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2016 2016
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2016 2016
dbSNP: rs886037845
rs886037845
TOR1AIP1
1 1 179917932 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs10927875
rs10927875
ZBTB17
3 1.000 0.040 1 15972817 intron variant C/T snv 0.29 0.010 1.000 1 2015 2015