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: rs121913400
rs121913400
17 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.800 1.000 0 2006 2015
dbSNP: rs587776850
rs587776850
1 1.000 0.080 3 41224643 inframe deletion TCT/- delins 0.700 0
dbSNP: rs775104326
rs775104326
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0