Source: CURATED ×
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
4 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.800 1.000 1 2010 2019
dbSNP: rs2014300
rs2014300
RUNX1
3 0.851 0.080 21 34985564 intron variant A/G;T snv 0.75 0.720 1.000 1 2012 2019
dbSNP: rs10052657
rs10052657
PDE4D
5 0.807 0.120 5 59111944 intron variant C/A snv 0.17 0.700 1.000 1 2014 2014
dbSNP: rs121913446
rs121913446
EGFR
2 0.925 0.120 7 55174735 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs13016963
rs13016963
FLACC1
3 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.700 1.000 1 2014 2014
dbSNP: rs1642764
rs1642764
ATP1B2
1 1.000 0.080 17 7654516 intron variant C/T snv 0.45 0.700 1.000 1 2014 2014
dbSNP: rs2239815
rs2239815
XBP1
3 0.925 0.080 22 28796682 non coding transcript exon variant T/C snv 0.44 0.700 1.000 1 2014 2014
dbSNP: rs28931588
rs28931588
CTNNB1
14 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs35597309
rs35597309 		2 0.925 0.120 6 32621489 regulatory region variant G/A snv 4.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs61271866
rs61271866
CDKN2A ; CDKN2B-AS1
1 1.000 0.080 9 21997016 intron variant T/A snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs7447927
rs7447927
STING1
1 1.000 0.080 5 139481561 synonymous variant C/G;T snv 0.62; 4.0E-06 0.700 1.000 1 2014 2014