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: rs201740530
rs201740530
3 0.882 0.160 8 100233436 stop gained C/T snv 8.7E-05 9.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs797045149
rs797045149
1 1.000 0.160 8 100191455 frameshift variant AAGTA/- delins 0.700 1.000 1 2013 2013