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: 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: 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: rs875989777
rs875989777
0.851 0.320 20 45894704 frameshift variant AT/- delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 3 1996 2014
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: 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: 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: 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: rs1057516037
rs1057516037
0.925 X 72464626 protein altering variant TGGAG/AC delins
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: rs1561873941
rs1561873941
0.925 0.200 6 43040335 frameshift variant T/- del
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: rs1561881909
rs1561881909
0.925 0.200 6 43044835 frameshift variant G/- delins
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: rs1567499068
rs1567499068
0.882 0.160 15 76574190 frameshift variant G/- delins
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: rs797044521
rs797044521
0.925 21 37480768 frameshift variant A/- delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2015 2015
dbSNP: rs797044523
rs797044523
0.882 21 37480756 frameshift variant -/A delins
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