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: 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: 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: 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: 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
dbSNP: rs386834061
rs386834061
0.923 0.321 8 99868312 stop gained C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs397517148
rs397517148
0.846 0.179 2 39023128 missense variant C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs74799832
rs74799832
RET
0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs780261665
rs780261665
0.846 0.179 3 48590258 stop gained G/A snp 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518791
rs1057518791
0.923 0.107 8 115604739 stop gained C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518799
rs1057518799
0.923 0.071 1 151430715 frameshift variant T/TGATTGGCA in-del
CUI: C0349588
Disease: Short stature
Short stature
0.700 0