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: rs2119289
rs2119289
1 1.000 0.040 2 163641436 intron variant C/A;G;T snv 0.020 1.000 2 2017 2017