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: rs769603301
rs769603301
ZFHX3 ; LOC101927978
16 72811684 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1565798439
rs1565798439
ZFC3H1
12 71610513 missense variant A/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs767539150
rs767539150
ZFC3H1
12 71656953 missense variant C/T snv 1.8E-04 1.7E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1333906033
rs1333906033
ZBED4 ; ALG12
22 49883834 stop gained C/T snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1339616347
rs1339616347
WRN
0.925 0.120 8 31068328 splice donor variant G/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs150300426
rs150300426
WDR6
3 49014077 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs537353127
rs537353127
VWCE
11 61273265 stop gained G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06
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: 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: rs1569197778
rs1569197778
USP51 ; LOC101928692
X 55488927 stop gained G/A 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: rs1562308994
rs1562308994
USP45 ; TSTD3
6 99446205 missense variant T/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: rs1562456317
rs1562456317
USP45 ; TSTD3
6 99508705 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1557523211
rs1557523211
USP24
1 55073913 splice region variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs80338903
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs144709443
rs144709443
UBR4
1 19155051 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs747867083
rs747867083
UBR4
1 19119624 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs748323629
rs748323629
UBR4
1 19151825 missense variant T/C snv 8.0E-06 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs761960636
rs761960636
UBR4
1 19094058 missense variant G/T snv 3.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs776593168
rs776593168
UBR4
1 19167086 missense variant G/A;C snv 1.2E-05; 1.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
0.724 0.480 3 132675342 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs181109321
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518791
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0