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: rs1003129577
rs1003129577
WDR48
1 3 39094706 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs10046
rs10046
CYP19A1 ; MIR4713HG
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.020 0.500 2 2008 2018
dbSNP: rs10053538
rs10053538
HAVCR2
7 0.807 0.160 5 157110499 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs10074991
rs10074991
PRKAA1
7 0.851 0.120 5 40790449 intron variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs1007541
rs1007541
FSHR
4 0.882 0.080 2 48981895 intron variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10079250
rs10079250
CSF1R
7 0.827 0.120 5 150070569 missense variant T/C snv 9.9E-02 8.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs10090154
rs10090154 		7 0.807 0.160 8 127519892 intergenic variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1010898370
rs1010898370
IDH1
2 1.000 2 208243469 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1011329790
rs1011329790
GGCT
3 0.925 0.080 7 30504681 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1012477
rs1012477
PER3
8 0.827 0.160 1 7798075 intron variant G/C snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1014509103
rs1014509103
ADAMTS4
2 1.000 0.080 1 161194005 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1017621656
rs1017621656
TGFB1
3 0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs10204525
rs10204525
PDCD1
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1020833107
rs1020833107
TTF1
1 9 132398145 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs10235235
rs10235235
ZNF394 ; ZNF789
4 0.925 0.080 7 99478208 intron variant T/C snv 0.13 0.010 < 0.001 1 2014 2014
dbSNP: rs1024708183
rs1024708183
MAP2K7
4 0.925 0.040 19 7909761 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs10269422
rs10269422
HDAC9
1 7 18814978 intron variant T/A snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
6 0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv 0.020 0.500 2 2005 2011
dbSNP: rs1034749666
rs1034749666
OLIG2
9 0.776 0.160 21 33027257 missense variant G/A snv 0.030 0.667 3 2014 2017
dbSNP: rs1040264140
rs1040264140
FURIN
2 1.000 0.080 15 90881744 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1041326
rs1041326
DAPK1
1 9 87541931 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.020 1.000 2 2004 2004
dbSNP: rs1042489
rs1042489
BIRC5
5 0.851 0.160 17 78224125 3 prime UTR variant T/C snv 0.40 0.010 < 0.001 1 2013 2013