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: rs2390536
rs2390536
SP4
1 1.000 0.120 7 21445779 intron variant G/A snv 0.26 0.700 1.000 1 2018 2018