Gene: SH2B1 ×
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: rs7498665
rs7498665
SH2B1
9 0.925 0.120 16 28871920 missense variant A/G;T snv 0.35 0.880 0.778 9 2011 2015
dbSNP: rs149091795
rs149091795
SH2B1
1 1.000 0.080 16 28866363 missense variant C/A snv 3.3E-04 1.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs4788101
rs4788101
TUFM ; SH2B1
2 0.925 0.120 16 28856483 intron variant C/T snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs4788102
rs4788102
SH2B1
6 0.851 0.160 16 28862077 intron variant G/A snv 0.34 0.010 < 0.001 1 2013 2013
dbSNP: rs7201929
rs7201929
TUFM ; SH2B1
2 1.000 0.080 16 28860645 intron variant T/C snv 0.25 0.010 1.000 1 2011 2011