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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.040 1.000 4 1999 2014
dbSNP: rs10927887
rs10927887
CLCNKA
3 0.925 0.040 1 16024780 missense variant A/C;G snv 0.55 0.020 1.000 2 2011 2013
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2009 2009
dbSNP: rs121918598
rs121918598
RYR2
4 0.851 0.080 1 237648523 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1253810269
rs1253810269
ARID1A
3 0.882 0.080 1 26696971 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12564445
rs12564445
TNNT2
5 0.851 0.040 1 201376359 intron variant G/A snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs1739843
rs1739843
HSPB7
4 0.882 0.040 1 16016759 intron variant T/C snv 0.62 0.010 1.000 1 2010 2010
dbSNP: rs188344082
rs188344082 		3 1.000 0.040 1 18783262 intergenic variant G/A snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs198358
rs198358
CLCN6 ; NPPA-AS1
4 0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32 0.010 < 0.001 1 2013 2013
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: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 2007 2007
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: rs567798234
rs567798234
AMPD2
5 0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06 0.010 1.000 1 2014 2014
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: 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: rs61823501
rs61823501
C1orf21
3 1.000 0.040 1 184396836 intron variant C/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs629301
rs629301
CELSR2
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs74056623
rs74056623 		3 1.000 0.040 1 18784584 intergenic variant G/A snv 8.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs74056624
rs74056624 		3 1.000 0.040 1 18790006 intergenic variant G/A snv 2.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs749303395
rs749303395
AMPD1
3 0.882 0.040 1 114680329 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs10189761
rs10189761 		4 0.882 0.120 2 646364 intergenic variant T/A snv 0.82 0.010 1.000 1 2019 2019
dbSNP: rs10932374
rs10932374
ERBB4
2 0.925 0.040 2 211379678 3 prime UTR variant G/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs13003941
rs13003941
ERBB4
2 0.925 0.040 2 211378978 3 prime UTR variant G/C;T snv 0.26 0.010 1.000 1 2016 2016