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: rs41511344
rs41511344
5 0.882 0.040 4 148152550 stop gained G/A;T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs5534
rs5534
2 0.925 0.080 4 148079934 3 prime UTR variant T/C snv 0.49 0.010 1.000 1 2015 2015