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: rs786202998
rs786202998
5 0.851 0.080 17 43091030 stop gained C/A;T snv 0.010 1.000 1 2018 2018