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: rs1480591236
rs1480591236
OBSCN
1 228276699 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs148723879
rs148723879
HKDC1
10 69246212 missense variant C/T snv 9.9E-05 1.2E-04
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: rs1557106484
rs1557106484
ATRX
X 77633315 missense variant C/A 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: rs1557810606
rs1557810606
CLIC4
1 24814131 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1557853919
rs1557853919
DENND4B
1 153939040 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1558053119
rs1558053119
EDEM3
1 184717581 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1558553140
rs1558553140
MTA3
2 42659795 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1560739587
rs1560739587
CLGN
4 140396131 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1560743601
rs1560743601
CLGN
4 140405975 missense variant G/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1560814874
rs1560814874
SMARCA5
4 143528006 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1561002040
rs1561002040
RAB33B ; LOC107984036
1.000 4 139454380 frameshift variant C/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1562005199
rs1562005199
ADGRB3
6 69382853 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1562137453
rs1562137453
ADGRB3
6 69049307 missense variant T/C 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: 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: rs1563293555
rs1563293555
HOOK3
8 42930130 missense variant T/G snv
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: rs1564726619
rs1564726619
HKDC1 ; LOC101928994
10 69232838 missense variant G/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1565117343
rs1565117343
OSBP
11 59594048 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1565272952
rs1565272952
PIK3C2A
11 17145862 splice donor variant C/A snv
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: rs1566529937
rs1566529937
RASA3
13 114052075 missense variant A/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0