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: rs7309
rs7309
1 2 161236129 3 prime UTR variant G/A snv 0.42 0.700 1.000 2 2017 2019
dbSNP: rs10930013
rs10930013
2 1.000 0.040 2 161213814 intron variant G/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs11884495
rs11884495
1 2 161203458 intron variant A/T snv 0.48 0.43 0.700 1.000 1 2018 2018
dbSNP: rs3754970
rs3754970
1 2 161235325 intron variant T/A;C;G snv 2.7E-05; 0.48 0.700 1.000 1 2018 2018