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: rs727505374
rs727505374
2 1.000 0.040 X 8539744 stop gained G/A snv 0.700 0
dbSNP: rs186630563
rs186630563
1 1.000 0.040 X 8699739 missense variant C/T snv 2.1E-04 7.2E-04 0.010 1.000 1 2006 2006