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: rs61295588
rs61295588
LMNA
2 0.925 0.160 1 156134809 missense variant T/C snv 0.700 1.000 3 2013 2017
dbSNP: rs1057515421
rs1057515421
LMNA
2 0.925 0.120 1 156136284 stop gained C/T snv 0.700 1.000 2 1999 2016
dbSNP: rs10927875
rs10927875
ZBTB17
3 1.000 0.040 1 15972817 intron variant C/T snv 0.29 0.020 1.000 2 2011 2013
dbSNP: rs3729547
rs3729547
TNNT2
1 1.000 0.040 1 201365254 missense variant G/A;C snv 0.72 0.020 1.000 2 2013 2015
dbSNP: rs3729843
rs3729843
TNNT2
2 0.925 0.040 1 201367856 intron variant C/A;G;T snv 1.8E-04; 0.42 0.020 1.000 2 2013 2014
dbSNP: rs61672878
rs61672878
LMNA
11 0.776 0.200 1 156136094 missense variant G/A;T snv 0.020 1.000 2 2003 2003
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 0.500 2 1997 2007
dbSNP: rs74315379
rs74315379
TNNT2
6 0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 0.020 1.000 2 2003 2016
dbSNP: rs74315380
rs74315380
TNNT2
5 0.851 0.080 1 201364366 missense variant G/A;C snv 0.020 1.000 2 2003 2016
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs11465817
rs11465817
IL23R
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1266360671
rs1266360671
RYR2
3 0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs138592977
rs138592977
LMNA
3 1.000 0.040 1 156135968 missense variant G/A snv 5.6E-05 6.3E-05 0.010 1.000 1 2012 2012
dbSNP: rs1406139218
rs1406139218
NPR1
1 1.000 0.040 1 153687341 missense variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs141490569
rs141490569
LMNA
1 1.000 0.040 1 156136258 missense variant G/A snv 8.0E-05 9.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs142000963
rs142000963
LMNA
8 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs143187236
rs143187236
MYOM3
1 1.000 0.040 1 24106050 stop gained C/A snv 5.5E-03 1.4E-03 0.010 1.000 1 2018 2018
dbSNP: rs149105212
rs149105212
MYOM3
1 1.000 0.040 1 24106049 missense variant T/A snv 5.5E-03 1.4E-03 0.010 1.000 1 2018 2018
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2009 2009
dbSNP: rs1892028
rs1892028
TNNT2
1 1.000 0.040 1 201367513 non coding transcript exon variant G/A snv 0.53 0.010 1.000 1 2013 2013
dbSNP: rs267598596
rs267598596
KCNQ4
5 0.827 0.120 1 40818164 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs397517907
rs397517907
LMNA
2 0.925 0.080 1 156134914 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs4641
rs4641
LMNA
6 0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21 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 < 0.001 1 1997 1997
dbSNP: rs56657623
rs56657623
LMNA
5 0.827 0.120 1 156138540 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2012 2012