ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Disease: Body Height ×
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: rs2856321
rs2856321 		12 11702839 intron variant G/A snv 0.52
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2010 2014
dbSNP: rs146216907
rs146216907 		12 11738231 intron variant CTCCTTCC/-;CTCCTTCCCTCCTTCC delins 0.32
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs2724616
rs2724616 		12 11717834 intron variant A/G snv 0.64
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2900208
rs2900208 		12 11725530 intron variant C/A snv 0.29
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019