Gene: PLCE1 ×
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: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.800 1.000 18 2010 2019
dbSNP: rs17417407
rs17417407
PLCE1
1 1.000 0.080 10 94171330 missense variant G/A;T snv 3.2E-05; 0.17 0.020 1.000 2 2012 2013
dbSNP: rs3765524
rs3765524
PLCE1
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.020 1.000 2 2014 2017
dbSNP: rs11187870
rs11187870
PLCE1 ; NOC3L
1 1.000 0.080 10 94328109 3 prime UTR variant G/C snv 6.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs11599672
rs11599672
PLCE1 ; LOC105378438
3 0.925 0.080 10 93993019 regulatory region variant T/G snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs12263737
rs12263737
PLCE1 ; PLCE1-AS1
2 1.000 0.080 10 94285156 intron variant G/A snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs17109671
rs17109671
PLCE1
1 1.000 0.080 10 94031856 synonymous variant T/C snv 0.31 0.40 0.010 1.000 1 2019 2019
dbSNP: rs2274224
rs2274224
PLCE1 ; PLCE1-AS1
6 0.882 0.080 10 94279840 missense variant G/A;C snv 8.8E-05; 0.44 0.010 1.000 1 2013 2013
dbSNP: rs71031566
rs71031566
PLCE1 ; PLCE1-AS1
1 1.000 0.080 10 94287212 non coding transcript exon variant -/ATTT ins 0.29 0.010 1.000 1 2018 2018
dbSNP: rs7922612
rs7922612
PLCE1
14 0.752 0.080 10 94051682 intron variant C/T snv 0.39 0.010 < 0.001 1 2014 2014