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: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 1.000 2 2019 2019
dbSNP: rs12921862
rs12921862
AXIN1
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs138377917
rs138377917
PSCA
5 0.827 0.160 8 142682113 stop gained G/A snv 2.1E-02 2.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs1805105
rs1805105
AXIN1
11 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 0.010 1.000 1 2019 2019
dbSNP: rs2067079
rs2067079
SNORD81 ; SNORD79 ; SNORD80 ; SNORD47 ; SNORD44 ; GAS5 ; SNORD77 ; SNORD78 ; SNORA103
7 0.807 0.240 1 173866073 non coding transcript exon variant C/T snv 0.22 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2073859
rs2073859
LIMK2
4 0.882 0.120 22 31278567 3 prime UTR variant G/A snv 4.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs2278329
rs2278329
OSMR
4 0.851 0.120 5 38921686 missense variant G/A snv 3.3E-02 2.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs2292016
rs2292016
OSMR ; OSMR-AS1
5 0.851 0.120 5 38845758 non coding transcript exon variant G/T snv 1.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2293607
rs2293607
TERC
6 0.807 0.200 3 169764547 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2735971
rs2735971
MRPL23 ; H19
7 0.790 0.240 11 2000419 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs2976391
rs2976391
PSCA ; JRK
7 0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04 0.010 1.000 1 2019 2019
dbSNP: rs2976392
rs2976392
PSCA ; JRK
15 0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 0.010 1.000 1 2019 2019
dbSNP: rs3024270
rs3024270
MRPL23 ; H19 ; HOTS
8 0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs370681
rs370681
AXIN1
6 0.807 0.200 16 342461 intron variant C/T snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs4143815
rs4143815
CD274
20 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs6790
rs6790
SNORD81 ; SNORD79 ; SNORD80 ; SNORD47 ; SNORD44 ; GAS5 ; SNORD78
7 0.790 0.320 1 173865494 non coding transcript exon variant G/A snv 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs8444
rs8444
CERS2
3 0.882 0.120 1 150966095 3 prime UTR variant G/A snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs9297976
rs9297976
PSCA ; JRK
7 0.790 0.160 8 142670817 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1046778
rs1046778
AS3MT ; BORCS7-ASMT ; LOC107984265
4 0.851 0.160 10 102901727 3 prime UTR variant T/C snv 0.30 0.020 1.000 2 2018 2018
dbSNP: rs10748835
rs10748835
AS3MT ; BORCS7-ASMT ; LOC107984265
5 0.827 0.160 10 102900499 non coding transcript exon variant G/A snv 0.41 0.020 1.000 2 2018 2018
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2018 2018
dbSNP: rs11191438
rs11191438
AS3MT ; BORCS7-ASMT
3 0.882 0.120 10 102878107 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs1130214
rs1130214
AKT1
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs1130233
rs1130233
AKT1
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2018 2018