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: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.030 1.000 3 2008 2017
dbSNP: rs3763313
rs3763313
BTNL2
7 0.807 0.320 6 32408694 upstream gene variant A/C snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs4652
rs4652
LGALS3
12 0.752 0.200 14 55138318 missense variant A/C snv 4.1E-06; 0.45 0.57 0.010 1.000 1 2018 2018
dbSNP: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs730881098
rs730881098
TNNT2
3 0.882 0.040 1 201365613 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs777064945
rs777064945
DNAH8
1 1.000 0.040 6 38722928 missense variant A/C;G snv 4.1E-06; 8.3E-06 0.010 1.000 1 2010 2010
dbSNP: rs9268494
rs9268494
BTNL2 ; TSBP1-AS1
3 0.882 0.200 6 32407575 non coding transcript exon variant A/C;T snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs59065411
rs59065411
LMNA
1 1.000 0.040 1 156115207 missense variant A/G snv 0.700 1.000 17 1999 2012
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.020 1.000 2 2012 2012
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: rs1241664568
rs1241664568
PRDX5
1 1.000 0.040 11 64320661 missense variant A/G snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs151080979
rs151080979
LRRC10
1 1.000 0.040 12 69610255 missense variant A/G snv 4.9E-03 4.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs1805105
rs1805105
AXIN1
11 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 0.010 1.000 1 2019 2019
dbSNP: rs2306969
rs2306969
FUT3 ; LOC101928844
4 0.925 0.040 19 5851790 intron variant A/G snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs373850074
rs373850074
PDLIM5
1 1.000 0.040 4 94654525 missense variant A/G snv 1.2E-04 7.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2010 2010
dbSNP: rs56165849
rs56165849
LDB3
1 1.000 0.040 10 86681952 intron variant A/G snv 0.50 0.010 < 0.001 1 2020 2020
dbSNP: rs6660685
rs6660685
CLCNKA ; HSPB7
1 1.000 0.040 1 16020493 intron variant A/G snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs74676849
rs74676849 		1 1.000 0.040 7 11849866 intergenic variant A/G snv 2.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs756636226
rs756636226
PRDX5
1 1.000 0.040 11 64321644 missense variant A/G snv 5.4E-05 4.9E-05 0.010 1.000 1 2011 2011
dbSNP: rs886039024
rs886039024
TPM1
1 1.000 0.040 15 63060900 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs57045855
rs57045855
LMNA
6 0.882 0.040 1 156134464 missense variant A/G;T snv 0.720 1.000 18 1999 2012
dbSNP: rs28933092
rs28933092
LMNA
2 1.000 0.040 1 156134497 missense variant A/G;T snv 0.800 1.000 17 1999 2012
dbSNP: rs144683137
rs144683137
VCL
2 0.925 0.120 10 74074745 missense variant A/G;T snv 1.2E-05; 3.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2010 2010