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: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.720 1.000 3 2019 2019
dbSNP: rs72650673
rs72650673
ATXN2 ; SH2B3
1 12 111447506 missense variant G/A snv 5.8E-04 7.8E-04 0.010 1.000 1 2014 2014