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: rs7239883
rs7239883
2 18 42567706 intron variant G/A;T snv 0.700 1.000 3 2015 2018
dbSNP: rs12954824
rs12954824
1 18 42556004 intron variant T/C snv 0.81 0.700 1.000 1 2019 2019
dbSNP: rs16975921
rs16975921
1 18 42334905 intron variant A/T snv 0.34 0.700 1.000 1 2019 2019