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: rs188541504
rs188541504
3 0.925 0.040 19 374362 missense variant C/T snv 8.0E-05 4.9E-05 0.030 1.000 3 2012 2018