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: rs397507545
rs397507545
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 4 2003 2006
dbSNP: rs104894366
rs104894366
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 3 2006 2011
dbSNP: rs137854544
rs137854544
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 3 1996 2014
dbSNP: rs397507520
rs397507520
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 3 2002 2008
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: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 2 2011 2014
dbSNP: rs267606959
rs267606959
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 2 2010 2011
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: 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: 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: rs80338796
rs80338796
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 2 2007 2007
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: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2017 2017
dbSNP: rs1557043622
rs1557043622
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2019 2019
dbSNP: rs1559155800
rs1559155800
1.000 0.200 2 219568150 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2019 2019
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: rs369634007
rs369634007
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2016 2016
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: rs797044524
rs797044524
0.925 21 37486513 missense variant A/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2015 2015
dbSNP: rs797044525
rs797044525
0.925 21 37490244 missense variant T/G snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2015 2015