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: rs377035972
rs377035972
14 24155679 missense variant G/A snv 5.6E-05 9.8E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs756386867
rs756386867
X 38160977 missense variant C/G snv 1.1E-05 9.5E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1363884891
rs1363884891
18 12673471 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs121918457
rs121918457
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: rs1010184002
rs1010184002
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1480591236
rs1480591236
1 228276699 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs759951698
rs759951698
14 23139485 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs28933386
rs28933386
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 2 2001 2006
dbSNP: rs121912855
rs121912855
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: rs747867083
rs747867083
1 19119624 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057519324
rs1057519324
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1441510334
rs1441510334
5 171436234 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs267607048
rs267607048
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 2 2009 2012
dbSNP: rs189150283
rs189150283
0.925 22 20992304 stop gained C/T snv 6.0E-05 7.0E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs752482499
rs752482499
14 23140529 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs121918459
rs121918459
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: rs201306926
rs201306926
4 140399004 missense variant T/C snv 3.6E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs368869806
rs368869806
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1344172059
rs1344172059
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: rs760929207
rs760929207
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2019 2019
dbSNP: rs763505389
rs763505389
17 78491549 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs121912854
rs121912854
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: rs747762087
rs747762087
3 73384465 missense variant T/A;G snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs752298579
rs752298579
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs397509426
rs397509426
0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0