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: rs17822931
rs17822931
ABCC11
7 0.827 0.080 16 48224287 missense variant C/G;T snv 4.0E-06; 0.22 0.13 0.010 1.000 1 2019 2019
dbSNP: rs73370840
rs73370840
SLC19A1 ; COL18A1
1 1.000 21 45497121 intron variant C/T snv 0.14 0.16 0.700 1.000 1 2019 2019
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.010 < 0.001 1 2012 2012
dbSNP: rs12998806
rs12998806
LOC101928278 ; LOC105373874
2 0.925 2 217029040 intergenic variant G/A snv 0.18 0.710 1.000 1 2016 2016
dbSNP: rs16917302
rs16917302
ZNF365
5 0.851 0.080 10 62501439 intron variant A/C snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs6788895
rs6788895
SIAH2
3 0.882 0.080 3 150750021 intron variant G/T snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs6828523
rs6828523
ADAM29
4 0.851 0.080 4 174925275 intron variant C/A snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs6938753
rs6938753
LINC01600 ; LINC02521
1 1.000 6 2634705 non coding transcript exon variant C/G snv 0.23 0.700 1.000 1 2019 2019
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
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: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.020 1.000 2 2013 2016
dbSNP: rs2456773
rs2456773
CDK1
1 1.000 10 60787260 intron variant C/G snv 0.30 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: 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: 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: rs11251942
rs11251942
LOC105376360
1 1.000 10 3554755 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs6905370
rs6905370
ESR1
2 0.925 6 152005062 intron variant G/A snv 0.38 0.010 1.000 1 2008 2008
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: 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: 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: 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: 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: 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: 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: rs4442975
rs4442975
LOC101928278
7 0.827 0.120 2 217056046 intergenic variant G/T snv 0.47 0.010 1.000 1 2019 2019