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: rs10771399
rs10771399 		5 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs2046210
rs2046210 		21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs4415084
rs4415084 		6 0.827 0.080 5 44662413 upstream gene variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs4849887
rs4849887 		7 0.807 0.080 2 120487546 intergenic variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs718282
rs718282 		2 0.925 0.080 7 152638744 intergenic variant A/G snv 0.94 0.010 1.000 1 2015 2015
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2018 2018
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs2363956
rs2363956
ANKLE1
8 0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 0.720 1.000 3 2010 2019
dbSNP: rs527616
rs527616
AQP4-AS1
4 0.851 0.080 18 26757460 intron variant C/G snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs473543
rs473543
ATG5
2 0.925 0.080 6 106327811 upstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.020 1.000 2 2011 2012
dbSNP: rs2278256
rs2278256
BABAM1 ; USHBP1
2 0.925 0.080 19 17267350 intron variant T/C snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs7250266
rs7250266
BABAM1 ; USHBP1
2 0.925 0.080 19 17266803 intron variant C/G snv 8.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs587780021
rs587780021
BARD1
6 0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs587781948
rs587781948
BARD1
5 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs1064793309
rs1064793309
BRCA1
2 0.925 0.080 17 43063889 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs4986850
rs4986850
BRCA1
4 0.851 0.080 17 43093454 missense variant C/A;T snv 5.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs772885662
rs772885662
BRCA1
2 0.925 0.080 17 43063911 synonymous variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs799917
rs799917
BRCA1
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs80356898
rs80356898
BRCA1
11 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs80357367
rs80357367
BRCA1
5 0.851 0.200 17 43057090 stop gained G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs8176318
rs8176318
BRCA1
6 0.807 0.120 17 43045257 3 prime UTR variant C/A snv 0.34 0.29 0.010 1.000 1 2014 2014
dbSNP: rs397507758
rs397507758
BRCA2
6 0.807 0.200 13 32339456 stop gained C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs552752779
rs552752779
BRIP1
2 0.925 0.080 17 61784427 splice region variant A/C;G snv 4.0E-06; 2.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019