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: rs1251713297
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1259852690
rs1259852690
FBRS
16 30669598 missense variant C/G snv 4.2E-06 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1297383239
rs1297383239
POLR2E
19 1091909 splice acceptor variant T/C snv 4.0E-06
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: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1363884891
rs1363884891
PSMG2 ; CEP76
18 12673471 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs137852552
rs137852552
SHOX
1.000 0.080 Y 641037 stop gained C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs137852814
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs137853883
rs137853883
FKBP10
0.882 0.120 17 41819307 frameshift variant C/-;CC delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs137854539
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs138249161
rs138249161
POLR3B
0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs139632595
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04
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: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
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: rs142239530
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1430282035
rs1430282035
MYH7B
20 34996388 missense variant G/A snv 8.3E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs143130309
rs143130309
IFT81
12 110163027 missense variant C/A;T snv 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs143814221
rs143814221
GHR
0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1441510334
rs1441510334
FGF18
5 171436234 missense variant C/T snv 7.0E-06
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: 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: rs1456887132
rs1456887132
PHF20
20 35869519 missense variant C/T snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1469540056
rs1469540056
LZTR1
22 20982433 missense variant G/C;T snv 5.1E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0