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: rs772038362
rs772038362
3 0.882 0.200 18 23939301 stop gained C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs80356678
rs80356678
2 0.925 0.200 18 23873194 frameshift variant -/G delins 1.4E-05 0.700 0
dbSNP: rs1052659025
rs1052659025
1 1.000 0.120 18 23873094 missense variant T/A snv 7.0E-06 0.010 1.000 1 2007 2007