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: rs387907268
rs387907268
2 0.925 0.080 17 76540205 stop gained C/G;T snv 4.4E-06; 2.6E-05 0.700 0
dbSNP: rs527236092
rs527236092
1 1.000 0.080 17 76540143 start lost T/C snv 4.4E-06 0.700 0
dbSNP: rs527451635
rs527451635
1 1.000 0.080 17 76540193 stop gained C/T snv 8.5E-06 7.6E-06 0.010 1.000 1 2013 2013