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: rs2317130
rs2317130
1 1.000 0.040 19 41355769 intron variant C/G;T snv 0.010 1.000 1 2017 2017