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: rs189919070
rs189919070
MIR4788
3 1.000 0.040 3 134436825 upstream gene variant C/A;T snv 0.700 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: rs2549513
rs2549513
MAF
4 0.851 0.080 16 79516830 downstream gene variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs267607499
rs267607499
DES
4 0.851 0.160 2 219418809 missense variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2014 2014
dbSNP: rs3212254
rs3212254
RIPK3 ; ADCY4
2 0.925 0.040 14 24336257 missense variant G/A;T snv 1.2E-05; 7.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs371401403
rs371401403
MYBPC3
6 0.807 0.080 11 47335996 missense variant G/A;T snv 6.8E-05; 7.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs3766871
rs3766871
RYR2
9 0.790 0.240 1 237614784 missense variant G/A;T snv 4.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs3829365
rs3829365
POSTN
3 0.925 0.040 13 37598759 5 prime UTR variant G/A;C snv 4.0E-06; 0.11 0.010 1.000 1 2011 2011
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs397516089
rs397516089
MYH7
6 0.827 0.080 14 23429807 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs397516881
rs397516881
BAG3
7 0.827 0.120 10 119676917 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs4506565
rs4506565
TCF7L2
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs460976
rs460976 		7 0.851 0.120 21 41463567 downstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4704221
rs4704221
CERT1
16 0.851 0.120 5 75463358 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs478442
rs478442 		18 0.851 0.120 2 21176344 intergenic variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4905014
rs4905014
ITPK1
16 0.851 0.120 14 92945686 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs5068
rs5068
CLCN6 ; NPPA ; NPPA-AS1
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs548097
rs548097 		1 1.000 0.040 13 75202132 intergenic variant G/C;T snv 0.800 1.000 1 2010 2010
dbSNP: rs57045855
rs57045855
LMNA
6 0.882 0.040 1 156134464 missense variant A/G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs587782951
rs587782951
JPH2
6 0.807 0.080 20 44160305 missense variant G/T snv 0.010 1.000 1 2018 2018
dbSNP: rs61195471
rs61195471
LMNA
6 0.827 0.160 1 156134496 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs61661343
rs61661343
LMNA
4 0.851 0.040 1 156130687 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs7081476
rs7081476
ANKRD26
7 0.851 0.120 10 26969741 intergenic variant G/C;T snv 0.700 1.000 1 2016 2016