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: rs121909525
rs121909525
ACTA1
2 1.000 0.080 1 229431994 missense variant C/A;G snv 0.700 1.000 6 2003 2015
dbSNP: rs727503036
rs727503036
EMD
1 X 154380232 splice acceptor variant A/G snv 0.700 1.000 6 1975 1999
dbSNP: rs727504448
rs727504448
DES
2 2 219420116 frameshift variant G/- del 7.0E-06 0.700 1.000 5 2000 2012
dbSNP: rs267607581
rs267607581
LMNA
4 0.925 0.080 1 156137651 splice region variant C/G snv 0.700 1.000 4 1996 2017
dbSNP: rs367543052
rs367543052
MYH7 ; MHRT
4 0.882 0.160 14 23415476 inframe deletion TCT/-;TCTTCT delins 0.700 1.000 4 2003 2012
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
6 0.851 0.200 14 23415153 missense variant C/T snv 0.700 1.000 4 2009 2015
dbSNP: rs57508089
rs57508089
LMNA
3 1.000 0.080 1 156136110 synonymous variant C/T snv 0.700 1.000 4 2007 2017
dbSNP: rs730880352
rs730880352
EMD
1 X 154381072 frameshift variant -/TGGGC delins 0.700 1.000 3 1995 2007
dbSNP: rs267607592
rs267607592
LMNA
2 1.000 0.080 1 156137233 splice donor variant G/A snv 0.700 1.000 2 2005 2009
dbSNP: rs727504901
rs727504901
EMD
1 X 154379688 splice acceptor variant A/G snv 0.700 1.000 2 1995 2007
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
7 0.827 0.080 12 119187078 missense variant A/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs1388207245
rs1388207245
CETN1
1 18 580558 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs267607495
rs267607495
DES
2 2 219418497 missense variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs121912637
rs121912637
TRPV4
5 0.851 0.160 12 109784378 missense variant G/A;C snv 0.700 0
dbSNP: rs267607143
rs267607143
TRPV4
5 0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
dbSNP: rs267607145
rs267607145
TRPV4
4 0.882 0.080 12 109798820 missense variant G/A;T snv 0.700 0
dbSNP: rs267607146
rs267607146
TRPV4
5 0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06 0.700 0
dbSNP: rs267607148
rs267607148
TRPV4
4 0.882 0.120 12 109800639 missense variant C/T snv 0.700 0
dbSNP: rs267607149
rs267607149
TRPV4
5 0.851 0.120 12 109784385 missense variant C/T snv 0.700 0
dbSNP: rs267607490
rs267607490
DES
6 0.925 0.160 2 219425734 missense variant C/T snv 0.700 0
dbSNP: rs387906904
rs387906904
TRPV4
5 0.851 0.080 12 109803009 missense variant G/A snv 0.700 0
dbSNP: rs387906905
rs387906905
TRPV4
10 0.882 0.120 12 109798819 missense variant C/T snv 0.700 0