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: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs120074160
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121434616
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121908216
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T 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: rs121912854
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121912855
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121913115
rs121913115
FGFR3
1.000 0.120 4 1801928 missense variant A/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121913528
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918458
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918460
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918461
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1230432769
rs1230432769
KCND1 ; OTUD5
X 48962751 missense variant G/A snv 2.9E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
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