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: rs12696304
rs12696304 		10 0.776 0.320 3 169763483 downstream gene variant C/G snv 0.38 0.700 1.000 2 2015 2018
dbSNP: rs2111398
rs2111398 		3 0.882 0.080 12 12922268 downstream gene variant A/G snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs75691080
rs75691080 		3 0.882 0.080 20 63638397 downstream gene variant C/T snv 9.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs2695237
rs2695237 		3 0.882 0.080 1 226415934 upstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2008 2008
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
11 0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 1.000 6 2010 2016
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2017 2017
dbSNP: rs1148732
rs1148732
GPRC5A ; MIR614
3 0.882 0.080 12 12915357 3 prime UTR variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1640875
rs1640875
GPRC5A
3 0.882 0.080 12 12916590 3 prime UTR variant A/T snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2009 2009
dbSNP: rs206118
rs206118
BRCA2
2 0.925 0.080 13 32315655 5 prime UTR variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 < 0.001 1 2015 2015
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2018 2018
dbSNP: rs10492396
rs10492396
BRCA2
2 0.925 0.080 13 32384750 non coding transcript exon variant G/A snv 4.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs2005974
rs2005974
PLA2G6
3 0.882 0.080 22 38141105 non coding transcript exon variant G/A snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs3752447
rs3752447
N4BP2L1
2 0.925 0.080 13 32407005 non coding transcript exon variant C/T snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs619586
rs619586
MALAT1
15 0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 26 2003 2020
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 24 2003 2020
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.070 1.000 7 2010 2019