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: rs141708090
rs141708090
C3orf20
1 1.000 0.120 3 14761602 missense variant G/T snv 1.9E-03 5.2E-04 0.700 1.000 1 2016 2016
dbSNP: rs17079534
rs17079534 		1 1.000 0.120 3 39805581 upstream gene variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs17505102
rs17505102
TP63
1 1.000 0.120 3 189683987 intron variant G/C snv 9.7E-02 0.800 1.000 1 2012 2012
dbSNP: rs6550253
rs6550253
LINC01811
3 1.000 0.120 3 34149739 intron variant G/A snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs78380171
rs78380171
LOC101927518
2 0.925 0.120 3 86720838 intergenic variant A/G snv 6.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs1478147351
rs1478147351
SETD2
1 1.000 0.120 3 47101485 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs186148199
rs186148199
SETD2
1 1.000 0.120 3 47123837 missense variant C/T snv 8.9E-05 3.5E-05 0.700 0
dbSNP: rs188887061
rs188887061
SETD2
1 1.000 0.120 3 47122353 missense variant C/T snv 4.2E-04 7.0E-05 0.700 0
dbSNP: rs17007695
rs17007695 		4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs1966862
rs1966862
ARHGAP24
8 0.790 0.120 4 85766908 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs200495769
rs200495769
PDLIM5
1 1.000 0.120 4 94573377 missense variant C/T snv 1.0E-04 1.3E-04 0.700 1.000 1 2016 2016
dbSNP: rs2036914
rs2036914
F11
5 0.882 0.160 4 186271327 intron variant T/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs2066865
rs2066865
FGG
10 0.807 0.240 4 154604124 downstream gene variant G/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs936094
rs936094
RXFP1
1 1.000 0.120 4 158523162 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs34531324
rs34531324
LINC01411
3 1.000 0.120 5 174435441 intron variant A/T snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs408626
rs408626
DHFR ; MSH3
2 0.925 0.120 5 80655314 non coding transcript exon variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs442767
rs442767
DHFR ; MSH3
2 0.925 0.120 5 80655677 intron variant G/T snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs72772090
rs72772090
CAST
3 1.000 0.120 5 96700607 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs924607
rs924607
LOC100996325 ; LOC105374608
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs10949482
rs10949482
NHLRC1
1 1.000 0.120 6 18121083 3 prime UTR variant C/T snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs11155133
rs11155133
LOC102723724
2 0.925 0.200 6 140848688 intron variant A/G snv 8.5E-02 0.800 1.000 1 2009 2009
dbSNP: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2002 2002
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2017 2017