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: 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: 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: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs387907144
rs387907144
ARID1B
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: rs397507545
rs397507545
PTPN11
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: rs267607048
rs267607048
SHOC2
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: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs28933068
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
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: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs137854539
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
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
LZTR1
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: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
0.724 0.480 3 132675342 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
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: rs752298579
rs752298579
TANGO2
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: rs1064795104
rs1064795104
EXOC6B
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: rs1060499548
rs1060499548
ABL1
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: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2018 2018
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: rs387907145
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs587777630
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0