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: 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
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: rs1057519334
rs1057519334
0.925 0.040 9 35802550 frameshift variant C/- del
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: rs1057519369
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057519370
rs1057519370
NF1
0.882 0.120 17 31159091 splice donor variant G/- delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057519436
rs1057519436
0.882 0.200 3 47846550 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057519451
rs1057519451
1.000 0.120 14 78709310 missense variant A/G snv 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057521737
rs1057521737
0.827 0.240 22 41173768 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1060505041
rs1060505041
0.716 0.400 19 13136099 missense variant C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1064796765
rs1064796765
0.763 0.240 14 102002950 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1085307135
rs1085307135
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1085307138
rs1085307138
0.807 0.160 8 143817591 splice donor variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0