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: rs397514601
rs397514601
CAPN5
3 0.882 0.040 11 77115423 missense variant G/A;T snv 4.0E-06 0.800 1.000 1 2012 2012
dbSNP: rs397514602
rs397514602
CAPN5
1 1.000 0.040 11 77115426 missense variant T/C snv 0.800 1.000 1 2012 2012
dbSNP: rs886041303
rs886041303
CAPN5
3 1.000 0.040 11 77115560 missense variant C/T snv 0.700 0
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2013 2018
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2018 2018
dbSNP: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2013 2013
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs2229094
rs2229094
LTA ; LOC100287329
17 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 0.010 1.000 1 2010 2010
dbSNP: rs2279115
rs2279115
BCL2
18 0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs4645878
rs4645878
BAX
5 0.882 0.120 19 48954681 upstream gene variant A/G snv 0.89 0.010 1.000 1 2015 2015