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: rs3749148
rs3749148
1 1.000 0.040 2 172465821 splice region variant T/G snv 0.16 0.010 1.000 1 2017 2017