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: rs3132468
rs3132468
MICB
5 0.827 0.240 6 31507709 intron variant C/T snv 0.77 0.710 1.000 2 2011 2013
dbSNP: rs10104997
rs10104997
RP1
2 0.925 0.040 8 54527508 intron variant C/T snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.700 1.000 1 2011 2011
dbSNP: rs3765524
rs3765524
PLCE1
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.700 1.000 1 2011 2011
dbSNP: rs3781264
rs3781264
PLCE1
5 0.851 0.120 10 94310618 intron variant A/G snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs4267616
rs4267616 		1 1.000 0.040 3 26804683 intergenic variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs6500818
rs6500818
RBFOX1
2 0.925 0.040 16 6767374 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs1800875
rs1800875
CMA1
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs3740360
rs3740360
PLCE1
7 0.827 0.240 10 94265734 intron variant A/C snv 9.7E-02 8.4E-02 0.010 1.000 1 2013 2013