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: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.740 1.000 6 2009 2017
dbSNP: rs893729101
rs893729101
2 1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05 0.010 1.000 1 2009 2009