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: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant C/- delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1158061584
rs1158061584
13 32443086 frameshift variant T/-;TT delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1230432769
rs1230432769
X 48962751 missense variant G/A snv 2.9E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1259852690
rs1259852690
16 30669598 missense variant C/G snv 4.2E-06 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1297383239
rs1297383239
19 1091909 splice acceptor variant T/C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1333906033
rs1333906033
22 49883834 stop gained C/T snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1363884891
rs1363884891
18 12673471 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs141844660
rs141844660
6 99443648 stop gained C/A snv 1.3E-04 1.2E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1430282035
rs1430282035
20 34996388 missense variant G/A snv 8.3E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs143130309
rs143130309
12 110163027 missense variant C/A;T snv 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1441510334
rs1441510334
5 171436234 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs144709443
rs144709443
1 19155051 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1456887132
rs1456887132
20 35869519 missense variant C/T snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1469540056
rs1469540056
22 20982433 missense variant G/C;T snv 5.1E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1480591236
rs1480591236
1 228276699 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs148723879
rs148723879
10 69246212 missense variant C/T snv 9.9E-05 1.2E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs150300426
rs150300426
3 49014077 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1557106484
rs1557106484
X 77633315 missense variant C/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1557523211
rs1557523211
1 55073913 splice region variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1557810606
rs1557810606
1 24814131 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1557853919
rs1557853919
1 153939040 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1558053119
rs1558053119
1 184717581 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1558553140
rs1558553140
2 42659795 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1560739587
rs1560739587
4 140396131 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1560743601
rs1560743601
4 140405975 missense variant G/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0