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: rs104886003
rs104886003
43 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs11263763
rs11263763
3 0.882 0.200 17 37743574 intron variant A/G snv 0.43 0.010 1.000 1 2015 2015