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: rs543860487
rs543860487
1 7 137904839 intron variant AAA/-;A;AA;AAAA;AAAAA;AAAAAA delins 0.700 1.000 1 2019 2019