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: rs137948794
rs137948794
2 12 56014530 intron variant G/A snv 3.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs772921
rs772921
1 12 56009793 intron variant C/T snv 0.25 0.700 1.000 1 2019 2019