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: rs1200172747
rs1200172747
XPA
2 0.925 0.160 9 97689570 frameshift variant TAAGA/- delins 4.0E-06 2.1E-05 0.700 1.000 3 1998 2016
dbSNP: rs104894132
rs104894132
XPA
2 0.925 0.160 9 97675579 stop gained G/A snv 3.0E-04 3.2E-04 0.700 1.000 2 2010 2017
dbSNP: rs149226993
rs149226993
XPA
2 0.925 0.160 9 97684965 stop gained G/A snv 4.0E-06 0.700 1.000 2 1992 2017
dbSNP: rs1554701103
rs1554701103
XPA
2 0.925 0.160 9 97684929 frameshift variant -/T delins 0.700 1.000 1 1998 1998