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: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant GC/G in-del
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518863
rs1057518863
0.923 0.107 3 48567190 missense variant C/A,T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518907
rs1057518907
0.878 0.179 20 58891811 stop gained C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518908
rs1057518908
0.923 0.071 12 47984112 missense variant C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518939
rs1057518939
1.000 0.036 8 99511424 frameshift variant CA/C in-del
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518940
rs1057518940
0.923 0.036 19 38499718 missense variant G/A snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518950
rs1057518950
TPO
0.878 0.250 2 1484815 missense variant C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1131691804
rs1131691804
0.878 0.143 15 48463123 missense variant G/A snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs113993993
rs113993993
0.923 0.179 7 66994210 splice donor variant A/C,G snp 4.0E-06; 3.9E-03 3.9E-03
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs119103263
rs119103263
0.821 0.143 1 11992659 missense variant C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs119473033
rs119473033
0.878 0.250 2 216478216 stop gained G/T snp 8.0E-05 1.6E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs120074160
rs120074160
0.923 0.179 7 66994286 stop gained T/A snp 1.7E-04 9.9E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs121434616
rs121434616
1.000 0.071 X 120544179 stop gained G/A snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs121912855
rs121912855
0.821 0.107 3 48575218 missense variant G/A snp 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs121913115
rs121913115
1.000 0.107 4 1801928 missense variant A/G snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs121918461
rs121918461
0.801 0.250 12 112450362 missense variant A/C,G,T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1801175
rs1801175
0.821 0.143 17 42903947 missense variant C/T snp 5.7E-04 2.2E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs201431517
rs201431517
0.878 0.107 15 65021533 missense variant G/A snp 3.5E-04 4.8E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs28933068
rs28933068
0.784 0.107 4 1805644 stop gained C/A,G,T snp 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs28935469
rs28935469
0.846 0.179 X 154367844 missense variant G/A snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015