ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Disease: THROMBOCYTOPENIA 5 ×
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: rs724159945
rs724159945 		1.000 12 11885968 missense variant C/A;T snv
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5 		0.800 0
dbSNP: rs724159946
rs724159946 		1.000 12 11884541 missense variant G/A snv 7.0E-06
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5 		0.800 0
dbSNP: rs724159947
rs724159947 		0.851 0.120 12 11869601 missense variant C/T snv
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5 		0.800 0
dbSNP: rs1555144911
rs1555144911 		1.000 12 11869574 frameshift variant T/- del
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5 		0.700 0
dbSNP: rs786205226
rs786205226 		1.000 12 11886025 missense variant A/G snv
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5 		0.700 0