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: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.020 1.000 2 2015 2016
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.710 1.000 1 2003 2003
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: 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: 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: 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: rs121912637
rs121912637
TRPV4
5 0.851 0.160 12 109784378 missense variant G/A;C snv 0.700 0
dbSNP: rs1555386022
rs1555386022
TRIP11
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs267607147
rs267607147
TRPV4
2 0.925 0.120 12 109784379 missense variant G/A;C snv 0.700 0
dbSNP: rs267607148
rs267607148
TRPV4
4 0.882 0.120 12 109800639 missense variant C/T snv 0.700 0
dbSNP: rs267607149
rs267607149
TRPV4
5 0.851 0.120 12 109784385 missense variant C/T 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: rs387906903
rs387906903
TRPV4
2 0.925 0.120 12 109803113 missense variant T/C snv 0.700 0
dbSNP: rs387906904
rs387906904
TRPV4
5 0.851 0.080 12 109803009 missense variant G/A snv 0.700 0
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