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: rs387906906
rs387906906
TRPV4
3 0.925 0.120 12 109786827 missense variant G/A snv 0.700 0
dbSNP: rs387906907
rs387906907
TRPV4
3 0.925 0.120 12 109800645 missense variant T/C snv 0.700 0
dbSNP: rs397514474
rs397514474
TRPV4
3 0.925 0.120 12 109814565 missense variant C/A snv 0.700 0
dbSNP: rs397514494
rs397514494
TRPV4
3 0.925 0.080 12 109808298 missense variant C/T snv 0.700 0
dbSNP: rs397517921
rs397517921
SGCD
2 5 156594936 frameshift variant A/- delins 0.700 0
dbSNP: rs515726157
rs515726157
TRPV4
2 1.000 0.040 12 109792704 missense variant T/C snv 0.700 0
dbSNP: rs515726166
rs515726166
TRPV4
2 1.000 0.040 12 109784362 frameshift variant TCATTCTTGCCCGGGTC/- delins 0.700 0
dbSNP: rs727503422
rs727503422
SGCD
3 0.925 0.200 5 156508703 splice donor variant G/A snv 0.700 0
dbSNP: rs77975504
rs77975504
TRPV4
6 0.827 0.280 12 109792695 missense variant C/T snv 0.700 0
dbSNP: rs387906902
rs387906902
TRPV4
3 0.925 0.080 12 109793560 missense variant G/C;T snv 4.0E-06 0.700 0
dbSNP: rs121912633
rs121912633
TRPV4
10 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs200563280
rs200563280
RYR1
4 0.882 0.160 19 38496466 stop gained C/G;T snv 4.0E-06; 1.6E-04 0.700 1.000 4 2010 2014
dbSNP: rs207482230
rs207482230
TFG
5 0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs193922839
rs193922839
RYR1
3 0.925 0.120 19 38534775 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.700 1.000 5 2007 2013
dbSNP: rs121908334
rs121908334
LDB3
3 0.925 0.080 10 86687218 missense variant C/T snv 4.0E-06 0.700 1.000 8 2005 2017
dbSNP: rs397517481
rs397517481
TTN ; TTN-AS1
2 1.000 0.040 2 178734327 splice donor variant C/A;T snv 4.3E-06 0.700 1.000 1 2013 2013
dbSNP: rs1221790507
rs1221790507
KLHL40
1 3 42686221 stop gained G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs150974575
rs150974575
DES
3 1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 0.700 1.000 9 2000 2013
dbSNP: rs778022582
rs778022582
KLHL40
4 0.925 0.080 3 42688963 missense variant A/C;G snv 9.5E-05; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs759856530
rs759856530
SDF4
1 1 1218858 missense variant A/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs397509420
rs397509420
KLHL40
2 1.000 0.080 3 42686220 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs193922879
rs193922879
RYR1
2 1.000 0.080 19 38580382 missense variant G/A snv 7.6E-05 1.1E-04 0.700 1.000 8 2008 2015
dbSNP: rs753056697
rs753056697
AKR1A1
2 1.000 0.040 1 45568049 missense variant G/A snv 2.6E-04 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs74521370
rs74521370
JSRP1
1 19 2253733 missense variant G/A snv 1.0E-02 1.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs80043033
rs80043033
JSRP1
1 19 2252991 missense variant C/G snv 0.20 0.16 0.010 1.000 1 2013 2013