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: rs242948
rs242948
2 0.925 0.080 17 45836178 intron variant G/C;T snv 0.010 < 0.001 1 2015 2015