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: 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: 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: rs200635937
rs200635937
GPR161
0.925 0.040 1 168104855 missense variant A/T snv 2.9E-03 8.0E-04
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: rs188675529
rs188675529
THAP11 ; CENPT
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs80338903
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1801175
rs1801175
G6PC
0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs201431517
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 2 2011 2014
dbSNP: rs201435914
rs201435914
DPRX
19 53636878 stop gained C/T snv 3.5E-04 3.6E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs202160208
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs143814221
rs143814221
GHR
0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs138249161
rs138249161
POLR3B
0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs202070666
rs202070666
PLXNA3
X 154460239 missense variant G/A snv 2.2E-04 6.5E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs376253982
rs376253982
KCND1
X 48966313 splice region variant C/A snv 2.0E-04 2.1E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs531047390
rs531047390
NRXN3
1.000 0.120 14 78968349 splice region variant A/G snv 2.0E-04 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs767539150
rs767539150
ZFC3H1
12 71656953 missense variant C/T snv 1.8E-04 1.7E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs120074160
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05
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: rs141844660
rs141844660
USP45 ; TSTD3
6 99443648 stop gained C/A snv 1.3E-04 1.2E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs766464011
rs766464011
LAMA5 ; MIR4758
20 62333128 missense variant G/T snv 1.1E-04 5.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs370433088
rs370433088
LAMA5
20 62322314 missense variant C/T snv 1.0E-04 1.0E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs148723879
rs148723879
HKDC1
10 69246212 missense variant C/T snv 9.9E-05 1.2E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397509426
rs397509426
GMPPB
0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0