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: rs267606621
rs267606621
3 0.882 0.080 16 70268356 missense variant C/T snv 0.700 1.000 2 2010 2012
dbSNP: rs777601008
rs777601008
1 1.000 0.080 16 70268366 missense variant G/A snv 7.0E-06 0.700 1.000 1 2018 2018