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: rs11065904
rs11065904
ATXN2 ; SH2B3
4 0.882 0.080 12 111449163 3 prime UTR variant T/A snv 3.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs2238154
rs2238154
ATXN2 ; SH2B3
4 0.882 0.080 12 111444681 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs739496
rs739496
ATXN2 ; SH2B3
10 0.790 0.160 12 111449855 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2017 2017