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: rs1057518967
rs1057518967
COL1A2
2 1.000 0.040 7 94423102 missense variant G/A snv 0.700 0
dbSNP: rs1209546147
rs1209546147
COL2A1 ; LOC105369752
1 1.000 0.040 12 47980597 missense variant C/T snv 0.700 0
dbSNP: rs515726153
rs515726153
TRPV4
1 1.000 0.040 12 109796638 missense variant T/C snv 0.700 0
dbSNP: rs515726154
rs515726154
TRPV4
1 1.000 0.040 12 109794406 inframe deletion AAG/- delins 0.700 0
dbSNP: rs515726155
rs515726155
TRPV4
1 1.000 0.040 12 109793945 inframe insertion -/GGA 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: rs515726169
rs515726169
TRPV4
1 1.000 0.040 12 109800754 missense variant C/G snv 0.700 0
dbSNP: rs749621890
rs749621890
EXTL3
7 0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs751994699
rs751994699
ALPL
1 1.000 0.040 1 21563170 frameshift variant GG/- delins 4.0E-06 2.1E-05 0.700 0
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: rs886044555
rs886044555
COL2A1
3 0.925 0.080 12 47985772 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057516230
rs1057516230
ALPL
2 0.925 0.080 1 21554124 frameshift variant AACT/- delins 0.700 0
dbSNP: rs116571438
rs116571438
TRPV4
2 0.925 0.080 12 109788483 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs121912632
rs121912632
TRPV4
3 0.882 0.080 12 109792407 missense variant C/T snv 0.700 0
dbSNP: rs121912634
rs121912634
TRPV4
2 0.925 0.080 12 109798768 missense variant T/C snv 0.700 0
dbSNP: rs121912635
rs121912635
TRPV4
2 0.925 0.080 12 109788462 missense variant C/A snv 0.700 0
dbSNP: rs267607150
rs267607150
TRPV4
2 0.925 0.080 12 109792671 missense variant T/C snv 0.700 0
dbSNP: rs387906324
rs387906324
TRPV4
2 0.925 0.080 12 109808308 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: rs387906904
rs387906904
TRPV4
5 0.851 0.080 12 109803009 missense variant G/A snv 0.700 0
dbSNP: rs515726159
rs515726159
TRPV4
2 0.925 0.080 12 109792689 missense variant A/G snv 0.700 0
dbSNP: rs515726160
rs515726160
TRPV4
2 0.925 0.080 12 109792678 missense variant C/A snv 0.700 0
dbSNP: rs515726164
rs515726164
TRPV4
2 0.925 0.080 12 109792379 missense variant C/T snv 0.700 0
dbSNP: rs515726165
rs515726165
TRPV4
2 0.925 0.080 12 109786716 missense variant C/T snv 0.700 0