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: rs1043679457
rs1043679457
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1064795104
rs1064795104
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 2 2013 2014
dbSNP: rs387907144
rs387907144
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 2 2012 2015
dbSNP: rs1034395178
rs1034395178
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2018 2018
dbSNP: rs1057516034
rs1057516034
0.925 0.120 5 37052453 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2016 2016
dbSNP: rs1561875767
rs1561875767
1.000 0.200 6 43041036 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
0.807 0.200 6 43050050 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2019 2019
dbSNP: rs724159949
rs724159949
0.827 0.240 21 37486563 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2015 2015
dbSNP: rs797044519
rs797044519
0.925 21 37478285 stop gained C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2015 2015
dbSNP: rs797044520
rs797044520
0.925 21 37505442 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2015 2015
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: rs1014959895
rs1014959895
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518791
rs1057518791
0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
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: rs1057519338
rs1057519338
0.882 X 110264571 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs119473033
rs119473033
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
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
0.925 0.080 X 120544179 stop gained G/A snv
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: rs1251713297
rs1251713297
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: rs1333906033
rs1333906033
22 49883834 stop gained C/T snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs137852552
rs137852552
1.000 0.080 Y 641037 stop gained C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1400419650
rs1400419650
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: rs141844660
rs141844660
6 99443648 stop gained C/A snv 1.3E-04 1.2E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 0