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: rs386834061
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518939
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1562456317
rs1562456317
USP45 ; TSTD3
6 99508705 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1562391520
rs1562391520
USP45 ; TSTD3
6 99482871 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1562308994
rs1562308994
USP45 ; TSTD3
6 99446205 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs141844660
rs141844660
USP45 ; TSTD3
6 99443648 stop gained C/A snv 1.3E-04 1.2E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1563765580
rs1563765580
RUNX1T1
8 92017274 frameshift variant -/A ins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1555386022
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 2 2010 2011
dbSNP: rs879253753
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs775707132
rs775707132
CPZ ; GPR78
4 8612120 missense variant G/A;T snv 1.6E-05; 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs375633720
rs375633720
CPZ ; GPR78
4 8601494 missense variant C/T snv 2.8E-05 4.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1553154130
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs312262690
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs531047390
rs531047390
NRXN3
1.000 0.120 14 78968349 splice region variant A/G snv 2.0E-04 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057519451
rs1057519451
NRXN3 ; LOC105370589
1.000 0.120 14 78709310 missense variant A/G snv 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs768564744
rs768564744
DNAH17
17 78525107 missense variant C/G;T snv 4.0E-06; 4.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs763505389
rs763505389
DNAH17 ; DNAH17-AS1
17 78491549 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1557106484
rs1557106484
ATRX
X 77633315 missense variant C/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1567499068
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2019 2019