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: rs201249971
rs201249971
8 0.776 0.120 3 185519292 missense variant A/T snv 1.6E-04 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs780626687
rs780626687
DSP
2 0.925 0.080 6 7567376 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2015 2015