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: rs2140773
rs2140773
1 2 232648465 intron variant C/A;G snv 0.61 0.800 1.000 1 2011 2011
dbSNP: rs13395911
rs13395911
3 2 232655544 intron variant A/T snv 0.59 0.700 1.000 1 2018 2018