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: rs267606785
rs267606785
EPCAM
1 1.000 0.120 2 47373820 missense variant G/A snv 0.800 0
dbSNP: rs606231203
rs606231203
EPCAM
1 1.000 0.120 2 47375300 splice donor variant G/A;T snv 5.6E-05; 4.0E-06 0.700 1.000 3 2008 2013
dbSNP: rs878854488
rs878854488
EPCAM
1 1.000 0.120 2 47375237 stop gained G/A snv 8.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1553342984
rs1553342984
EPCAM
1 1.000 0.120 2 47373996 frameshift variant -/C ins 0.700 0
dbSNP: rs376155665
rs376155665
EPCAM
3 0.925 0.200 2 47378939 intron variant A/C;G;T snv 4.0E-06; 7.6E-05; 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs397514661
rs397514661
EPCAM
1 1.000 0.120 2 47374035 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs606231204
rs606231204
EPCAM ; MIR559
1 1.000 0.120 2 47377020 frameshift variant -/C delins 0.700 0
dbSNP: rs606231281
rs606231281
EPCAM ; MIR559
1 1.000 0.120 2 47377012 splice acceptor variant A/G snv 0.700 0
dbSNP: rs3173615
rs3173615
TMEM106B
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.020 1.000 2 2015 2018
dbSNP: rs121908403
rs121908403
SPINT2
5 0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs146044104
rs146044104
EPCAM
1 1.000 0.120 2 47375296 missense variant G/A;T snv 2.4E-05; 1.2E-05 0.010 1.000 1 2016 2016