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: rs10927875
rs10927875
ZBTB17
3 1.000 0.040 1 15972817 intron variant C/T snv 0.29 0.010 1.000 1 2015 2015
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: rs1786814
rs1786814
CELF4
1 18 37497065 intron variant G/A;C snv 0.010 1.000 1 2016 2016
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: rs4149018
rs4149018
SLCO1B1
2 1.000 0.080 12 21138627 intron variant T/G snv 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs4746172
rs4746172
VCL
3 10 74096084 intron variant C/T snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs1024095026
rs1024095026
ABCC9
1 12 21887879 stop gained G/A snv 1.2E-05 0.700 1.000 1 2012 2012
dbSNP: rs1057518422
rs1057518422
TAB2
7 0.851 0.240 6 149378954 stop gained C/T snv 0.010 1.000 1 2018 2018
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: rs267607554
rs267607554
LMNA
3 1.000 0.080 1 156135925 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs755747010
rs755747010
AGL
2 1.000 0.080 1 99870764 stop gained C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
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: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 0
dbSNP: rs1242465339
rs1242465339
UQCRFS1
3 1.000 0.080 19 29207763 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs141735183
rs141735183
MYH7
1 14 23420222 stop gained C/A snv 8.2E-06 7.0E-06 0.700 0
dbSNP: rs1425855043
rs1425855043
PKP2
2 1.000 0.080 12 32878105 stop gained C/A snv 0.700 0
dbSNP: rs1553644307
rs1553644307
TTN ; TTN-AS1
3 0.925 0.160 2 178591418 stop gained T/A snv 0.700 0
dbSNP: rs1559051231
rs1559051231
TTN ; TTN-AS1
1 2 178535728 stop gained C/T snv 0.700 0
dbSNP: rs1559746821
rs1559746821
TTN ; TTN-AS1
1 2 178608282 stop gained A/T snv 0.700 0
dbSNP: rs1561323791
rs1561323791
TTN ; TTN-AS1 ; LOC101927055
1 2 178779110 stop gained C/T snv 0.700 0
dbSNP: rs1561686893
rs1561686893
DSP
1 6 7567372 stop gained C/T snv 0.700 0
dbSNP: rs1561690319
rs1561690319
DSP
1 6 7571506 stop gained C/T snv 0.700 0
dbSNP: rs1565590309
rs1565590309
PKP2
1 12 32850910 stop gained G/A snv 0.700 0
dbSNP: rs1565628520
rs1565628520
MYBPC3
1 11 47343585 stop gained -/GCTCACCTGGTAGGCCGGCTCCAGCTTCT delins 0.700 0