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: rs527656756
rs527656756
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2017 2017
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: 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: 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
dbSNP: rs797044526
rs797044526
0.925 21 37490393 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2015 2015
dbSNP: rs867410737
rs867410737
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: 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: 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: rs1057518345
rs1057518345
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
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: rs1057518799
rs1057518799
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant C/- delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518863
rs1057518863
0.925 0.120 3 48567190 missense variant C/A;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: rs1057518908
rs1057518908
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518939
rs1057518939
1.000 0.040 8 99511424 frameshift variant A/- del
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518940
rs1057518940
0.925 0.040 19 38499718 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0