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: rs267606541
rs267606541
AIP
5 0.827 0.160 11 67487147 stop gained C/T snv 0.010 1.000 1 2012 2012