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: rs768257384
rs768257384
1 1.000 0.120 17 18157059 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs780170125
rs780170125
2 0.925 0.120 17 18149489 frameshift variant ACAG/- delins 1.3E-04 0.700 0