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: rs587150
rs587150 		1 1.000 6 167818409 intron variant G/A snv 0.89 0.700 1.000 1 2019 2019
dbSNP: rs2268578
rs2268578
LUM
3 0.882 0.080 12 91107421 intron variant A/G snv 0.71 0.010 1.000 1 2008 2008
dbSNP: rs704010
rs704010
ZMIZ1
4 0.851 0.080 10 79081391 intron variant T/C snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs7082321
rs7082321
SFMBT2
1 1.000 10 7272478 intron variant C/T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs2981579
rs2981579
FGFR2
8 0.776 0.280 10 121577821 intron variant A/G snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs4148269
rs4148269
UGT2B15
3 0.882 0.080 4 68647129 missense variant T/G snv 0.55 0.49 0.010 1.000 1 2015 2015
dbSNP: rs12443621
rs12443621
TOX3
6 0.807 0.120 16 52514125 intron variant A/G snv 0.48 0.010 1.000 1 2010 2010
dbSNP: rs4442975
rs4442975
LOC101928278
7 0.827 0.120 2 217056046 intergenic variant G/T snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs13267382
rs13267382
LINC00536
3 0.882 0.080 8 116197325 intron variant A/G snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs4973768
rs4973768
SLC4A7
7 0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs1432679
rs1432679
EBF1
4 0.851 0.080 5 158817075 intron variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs1292011
rs1292011
LOC105370003
4 0.851 0.080 12 115398717 regulatory region variant A/G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs10822013
rs10822013
ZNF365
4 0.851 0.080 10 62492218 intron variant C/T snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs700518
rs700518
CYP19A1 ; MIR4713HG
13 0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 0.020 1.000 2 2013 2015
dbSNP: rs6905370
rs6905370
ESR1
2 0.925 6 152005062 intron variant G/A snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs11251942
rs11251942
LOC105376360
1 1.000 10 3554755 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019
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: rs981782
rs981782
HCN1
4 0.851 0.080 5 45285616 intron variant A/C snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs2823093
rs2823093 		3 0.882 0.080 21 15148511 intergenic variant G/A snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs2456773
rs2456773
CDK1
1 1.000 10 60787260 intron variant C/G snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.020 1.000 2 2013 2016
dbSNP: rs7874234
rs7874234
TSC1
3 0.882 0.040 9 132937614 intron variant C/T snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs250108
rs250108
FGF1 ; SPRY4-AS1
2 0.925 5 142614908 intron variant G/A snv 0.24 0.010 1.000 1 2013 2013