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: rs7129220
rs7129220
5 11 10328991 intron variant G/A snv 0.10 0.700 1.000 2 2011 2017
dbSNP: rs1450271
rs1450271
2 11 10334568 intron variant C/T snv 0.43 0.700 1.000 1 2016 2016