SH2B1, SH2B adaptor protein 1, 25970

N. diseases: 140; N. variants: 19
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: rs7498665
rs7498665
0.925 0.120 16 28871920 missense variant A/G;T snv 0.35
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 4 2009 2019
dbSNP: rs4788102
rs4788102
0.851 0.160 16 28862077 intron variant G/A snv 0.34
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2017 2017
dbSNP: rs7359397
rs7359397
1.000 0.040 16 28874338 upstream gene variant C/T snv 0.28
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2010 2010