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: rs797044526
rs797044526
DYRK1A ; LOC105372797
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
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: rs1010184002
rs1010184002
PEX6
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
PRMT7
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
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518791
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518863
rs1057518863
COL7A1
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
GNAS
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
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518940
rs1057518940
RYR1
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
NPR2
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: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057519436
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057519451
rs1057519451
NRXN3 ; LOC105370589
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
EP300
0.827 0.240 22 41173768 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1060505041
rs1060505041
NACC1
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
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1131691804
rs1131691804
FBN1
0.807 0.200 15 48463123 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs113993993
rs113993993
SBDS
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: 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: rs119103263
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0