Source: ALL
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: rs587777572
rs587777572
PXDN
1 1.000 2 1649142 missense variant G/A;C snv 4.1E-06 0.800 1.000 1 2011 2011
dbSNP: rs369535598
rs369535598
PXDN
1 1.000 2 1666484 stop gained G/A snv 8.4E-06 0.700 0
dbSNP: rs558163499
rs558163499
PXDN
1 1.000 2 1649212 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs587777573
rs587777573
PXDN
1 1.000 2 1649383 frameshift variant ACACCAGGCGCGGCATGGGAAGG/- delins 4.0E-06 0.700 0