Gene: SH2B3 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111340708
rs111340708
ATXN2 ; SH2B3
2 0.925 0.080 12 111447548 intron variant TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG delins 0.52 0.010 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs755796482
rs755796482
ATXN2 ; SH2B3
1 1.000 0.080 12 111447512 missense variant G/A snv 4.1E-06 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs918140013
rs918140013
ATXN2 ; SH2B3
2 0.925 0.080 12 111447663 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016