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: rs1259503
rs1259503 		1 10 75232686 downstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs727428
rs727428 		11 0.882 0.200 17 7634474 downstream gene variant T/C snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs1550117
rs1550117
DNMT3A
11 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs17115149
rs17115149
CYP17A1
4 0.882 0.160 10 102837961 upstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs6124715
rs6124715
EPPIN ; EPPIN-WFDC6
1 20 45548848 upstream gene variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1569167515
rs1569167515
POLR2F ; SOX10
4 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0
dbSNP: rs2070565
rs2070565
DNMT3L
3 0.925 0.080 21 44261270 splice region variant T/C snv 0.70 0.75 0.010 1.000 1 2012 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
dbSNP: rs11467497
rs11467497
DEFB126
1 20 145515 frameshift variant CAAA/- delins 0.15 0.18 0.010 1.000 1 2015 2015
dbSNP: rs140685149
rs140685149
DEFB126
2 1.000 0.080 20 145670 frameshift variant CC/-;C;CCC delins 0.010 1.000 1 2015 2015
dbSNP: rs1042389
rs1042389
CYP2B6
1 19 41018248 3 prime UTR variant T/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs1050482
rs1050482
SLC20A1
1 2 112663757 3 prime UTR variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs12348
rs12348
TUSC1
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 1 2018 2018
dbSNP: rs1801260
rs1801260
CLOCK ; TMEM165
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2303846
rs2303846
CPEB1
1 15 82544529 3 prime UTR variant G/A snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs3749474
rs3749474
CLOCK ; TMEM165
17 0.724 0.320 4 55434518 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs4986938
rs4986938
ESR2
35 0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 0.010 1.000 1 2014 2014
dbSNP: rs55763075
rs55763075
MTHFR ; C1orf167
6 0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs6631
rs6631
CGA
1 6 87085541 3 prime UTR variant A/T snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs68073206
rs68073206
LHCGR ; GTF2A1L ; STON1-GTF2A1L
2 1.000 0.040 2 48721568 3 prime UTR variant A/C snv 0.29 0.010 < 0.001 1 2017 2017
dbSNP: rs10459953
rs10459953
NOS2
3 0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1394205
rs1394205
FSHR
3 0.925 0.120 2 49154446 5 prime UTR variant C/T snv 0.32 0.28 0.010 1.000 1 2012 2012
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2015 2015