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: rs375170572
rs375170572
5 0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05 0.700 1.000 1 2007 2007