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: rs397514473
rs397514473
TRPV4
2 0.925 0.120 12 109814531 missense variant G/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: 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: 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: rs515726160
rs515726160
TRPV4
2 0.925 0.080 12 109792678 missense variant C/A snv 0.700 0
dbSNP: rs515726161
rs515726161
TRPV4
2 0.925 0.120 12 109792664 missense variant G/C snv 0.700 0
dbSNP: rs515726162
rs515726162
TRPV4
2 0.925 0.120 12 109792403 missense variant G/T snv 0.700 0
dbSNP: rs515726163
rs515726163
TRPV4
2 0.925 0.120 12 109792401 missense variant A/G 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
dbSNP: rs515726166
rs515726166
TRPV4
2 1.000 0.040 12 109784362 frameshift variant TCATTCTTGCCCGGGTC/- delins 0.700 0
dbSNP: rs515726167
rs515726167
TRPV4
2 0.925 0.120 12 109803106 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs515726169
rs515726169
TRPV4
1 1.000 0.040 12 109800754 missense variant C/G snv 0.700 0
dbSNP: rs515726171
rs515726171
TRPV4
2 0.925 0.120 12 109798883 missense variant T/C snv 0.700 0
dbSNP: rs515726172
rs515726172
TRPV4
2 0.925 0.120 12 109798774 missense variant A/G snv 0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
31 0.763 0.240 17 50193038 missense variant C/A;T 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