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: rs4130548
rs4130548
5 1.000 0.040 1 77998184 intron variant T/C snv 0.25 0.700 1.000 1 2017 2017