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: rs748910652
rs748910652
1 1.000 0.040 10 102400759 stop gained C/T snv 8.2E-06 0.010 1.000 1 2019 2019