Source: CLINVAR ×
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: rs746481984
rs746481984
CDH1
3 0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06 0.720 1.000 0 2016 2018
dbSNP: rs1555515731
rs1555515731
CDH1
4 0.882 0.160 16 68812189 frameshift variant T/- delins 0.700 0
dbSNP: rs180177133
rs180177133
PALB2
9 0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587780537
rs587780537
CDH1
3 0.925 0.080 16 68810224 missense variant G/A snv 0.700 0