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: rs104894190
rs104894190
AIP
4 0.882 0.120 11 67490911 missense variant G/A snv 1.7E-03 1.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs267606573
rs267606573
1 1.000 0.120 11 67490391 stop gained A/G;T snv 3.6E-05 0.010 1.000 1 2010 2010