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: rs12991555
rs12991555
1 2 143429947 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13428598
rs13428598
2 2 143492918 intron variant C/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs6721148
rs6721148
1 2 143745646 intron variant C/T snv 0.30 0.700 1.000 1 2018 2018