Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516230
rs1057516230
ALPL
0.925 0.080 1 21554124 frameshift variant AACT/- delins
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs751994699
rs751994699
ALPL
1.000 0.040 1 21563170 frameshift variant GG/- delins 4.0E-06 2.1E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs1057518967
rs1057518967
COL1A2
1.000 0.040 7 94423102 missense variant G/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs1209546147
rs1209546147
COL2A1 ; LOC105369752
1.000 0.040 12 47980597 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs369091875
rs369091875
DCHS1
0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs181011657
rs181011657
DYNC2H1
0.882 0.120 11 103257719 stop gained C/T snv 6.8E-05 1.4E-04
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs759549373
rs759549373
DYNC2H1
0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs886041093
rs886041093
EHMT1
0.827 0.280 9 137815998 missense variant G/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs749621890
rs749621890
EXTL3
0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.710 1.000 0 2003 2003
dbSNP: rs886043613
rs886043613
FGFR3
0.925 0.080 4 1801519 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs869312694
rs869312694
MAGEL2
0.925 0.120 15 23644535 stop gained C/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs1014959895
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs1251713297
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs864309531
rs864309531
SMARCAL1
0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs369634007
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 1.000 1 2016 2016
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs1555386022
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs116571438
rs116571438
TRPV4
0.925 0.080 12 109788483 missense variant G/A;T snv 8.0E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs121912632
rs121912632
TRPV4
0.882 0.080 12 109792407 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs121912633
rs121912633
TRPV4
0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs121912634
rs121912634
TRPV4
0.925 0.080 12 109798768 missense variant T/C snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs121912635
rs121912635
TRPV4
0.925 0.080 12 109788462 missense variant C/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0