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: rs1560814874
rs1560814874
SMARCA5
4 143528006 missense variant A/C snv
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
dbSNP: rs1566615893
rs1566615893
RNF31
14 24155442 missense variant A/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1567280099
rs1567280099
ANKS3
16 4697038 frameshift variant -/G delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1567547614
rs1567547614
FBRS
16 30668622 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1567858976
rs1567858976
PSMD11
17 32477518 splice region variant CAGA/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1567966432
rs1567966432
GREB1L ; LOC101927521
18 21383629 missense variant T/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1568105562
rs1568105562
FZD2
17 44559091 missense variant T/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1568162263
rs1568162263
MED24
17 40029767 missense variant G/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1568383758
rs1568383758
BRD4
19 15255488 missense variant C/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1569148952
rs1569148952
H2AP ; SYTL5
X 37991160 frameshift variant TG/- del
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: rs1569405174
rs1569405174
AMMECR1 ; LOC105373312
X 110317618 frameshift variant G/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs193922466
rs193922466
SHOX
Y 634687 missense variant A/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0