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: rs11353326
rs11353326
2 3 48941172 intron variant AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA delins 0.700 1.000 1 2016 2016