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: rs113993965
rs113993965
TP63
2 0.925 0.240 3 189808465 missense variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1173679499
rs1173679499
TP63
5 0.827 0.280 3 189869372 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs13222385
rs13222385
EGFR ; EGFR-AS1
3 1.000 0.160 7 55183900 intron variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2159359
rs2159359
NME1 ; NME1-NME2
3 1.000 0.160 17 51161675 3 prime UTR variant C/A snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs777255243
rs777255243
TP63
1 1.000 0.160 3 189880162 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016