PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs141047069
rs141047069
0.925 0.080 16 23638074 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs180177111
rs180177111
0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs249935
rs249935
0.925 0.080 16 23613903 intron variant T/C snv 0.13
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs249954
rs249954
0.925 0.080 16 23629146 intron variant G/A snv 0.31
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016