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: rs74315304
rs74315304
CTSK
3 0.925 0.120 1 150799228 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1057516230
rs1057516230
ALPL
2 0.925 0.080 1 21554124 frameshift variant AACT/- delins 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: rs864309531
rs864309531
SMARCAL1
5 0.882 0.400 2 216423668 stop gained G/T snv 0.700 0
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: 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: 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: 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: rs886043613
rs886043613
FGFR3
4 0.925 0.080 4 1801519 missense variant C/T snv 0.700 0
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: rs1057518967
rs1057518967
COL1A2
2 1.000 0.040 7 94423102 missense variant G/A 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: rs121918130
rs121918130
INPP5E
18 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
dbSNP: rs886041093
rs886041093
EHMT1
7 0.827 0.280 9 137815998 missense variant G/A snv 0.700 0
dbSNP: rs181011657
rs181011657
DYNC2H1
3 0.882 0.120 11 103257719 stop gained C/T snv 6.8E-05 1.4E-04 0.700 0
dbSNP: rs369091875
rs369091875
DCHS1
2 0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03 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: rs886044555
rs886044555
COL2A1
3 0.925 0.080 12 47985772 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs116571438
rs116571438
TRPV4
2 0.925 0.080 12 109788483 missense variant G/A;T snv 8.0E-06 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: rs121912633
rs121912633
TRPV4
10 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121912634
rs121912634
TRPV4
2 0.925 0.080 12 109798768 missense variant T/C snv 0.700 0