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: 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
dbSNP: rs759549373
rs759549373
DYNC2H1
4 0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06 0.700 0
dbSNP: rs77975504
rs77975504
TRPV4
6 0.827 0.280 12 109792695 missense variant C/T snv 0.700 0
dbSNP: rs864309531
rs864309531
SMARCAL1
5 0.882 0.400 2 216423668 stop gained G/T snv 0.700 0
dbSNP: rs869312694
rs869312694
MAGEL2
3 0.925 0.120 15 23644535 stop gained C/A snv 0.700 0
dbSNP: rs886041093
rs886041093
EHMT1
7 0.827 0.280 9 137815998 missense variant G/A snv 0.700 0
dbSNP: rs886043613
rs886043613
FGFR3
4 0.925 0.080 4 1801519 missense variant C/T snv 0.700 0