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: 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: rs1563765580
rs1563765580
8 92017274 frameshift variant -/A ins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1085307139
rs1085307139
0.925 0.040 8 143817380 frameshift variant -/C delins
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: rs1553538488
rs1553538488
1.000 0.200 2 219570542 frameshift variant -/G delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1567280099
rs1567280099
16 4697038 frameshift variant -/G delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs312262690
rs312262690
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05
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: rs587776917
rs587776917
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs879253753
rs879253753
0.851 0.280 16 89280526 frameshift variant -/T delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
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: rs1057518939
rs1057518939
1.000 0.040 8 99511424 frameshift variant A/- del
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1553655558
rs1553655558
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs782144677
rs782144677
1 147285398 frameshift variant A/- del 2.8E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
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: rs1558053119
rs1558053119
1 184717581 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1560814874
rs1560814874
4 143528006 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1562456317
rs1562456317
6 99508705 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs397507517
rs397507517
0.827 0.160 12 112450497 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs540351799
rs540351799
1 29325243 missense variant A/C snv 1.2E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs113993993
rs113993993
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs397517150
rs397517150
0.827 0.160 2 39023118 missense variant A/C;G snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs121918461
rs121918461
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs730881014
rs730881014
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0