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: rs515726155
rs515726155
TRPV4
1 1.000 0.040 12 109793945 inframe insertion -/GGA delins 0.700 0
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.020 1.000 2 2015 2016
dbSNP: rs369634007
rs369634007
TMEM87B
10 0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs774568856
rs774568856
PGM3
4 0.882 0.200 6 83174481 missense variant A/G snv 1.7E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs515726158
rs515726158
TRPV4
2 0.925 0.120 12 109792702 missense variant A/G snv 0.700 0
dbSNP: rs515726159
rs515726159
TRPV4
2 0.925 0.080 12 109792689 missense variant A/G snv 0.700 0
dbSNP: rs515726163
rs515726163
TRPV4
2 0.925 0.120 12 109792401 missense variant A/G snv 0.700 0
dbSNP: rs515726172
rs515726172
TRPV4
2 0.925 0.120 12 109798774 missense variant A/G snv 0.700 0
dbSNP: rs1057516230
rs1057516230
ALPL
2 0.925 0.080 1 21554124 frameshift variant AACT/- delins 0.700 0
dbSNP: rs515726154
rs515726154
TRPV4
1 1.000 0.040 12 109794406 inframe deletion AAG/- delins 0.700 0
dbSNP: rs121912635
rs121912635
TRPV4
2 0.925 0.080 12 109788462 missense variant C/A snv 0.700 0
dbSNP: rs1251713297
rs1251713297
PRMT7
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs1555386022
rs1555386022
TRIP11
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs397514474
rs397514474
TRPV4
3 0.925 0.120 12 109814565 missense variant C/A snv 0.700 0
dbSNP: rs515726152
rs515726152
TRPV4
2 0.925 0.120 12 109798742 missense variant C/A snv 0.700 0
dbSNP: rs515726160
rs515726160
TRPV4
2 0.925 0.080 12 109792678 missense variant C/A snv 0.700 0
dbSNP: rs869312694
rs869312694
MAGEL2
3 0.925 0.120 15 23644535 stop gained C/A snv 0.700 0
dbSNP: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs121912633
rs121912633
TRPV4
10 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
dbSNP: rs515726169
rs515726169
TRPV4
1 1.000 0.040 12 109800754 missense variant C/G snv 0.700 0
dbSNP: rs587777512
rs587777512
LRBA ; MAB21L2
7 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs369091875
rs369091875
DCHS1
2 0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03 0.700 0