ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs724159947
rs724159947
0.851 0.120 12 11869601 missense variant C/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.710 1.000 2 2015 2015
dbSNP: rs786205155
rs786205155
0.882 0.120 12 11884481 missense variant T/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.710 1.000 1 2015 2015
dbSNP: rs724159945
rs724159945
1.000 12 11885968 missense variant C/A;T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs724159946
rs724159946
1.000 12 11884541 missense variant G/A snv 7.0E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs786205154
rs786205154
1.000 0.120 12 11885921 coding sequence variant GAACA/- delins
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.700 0