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: rs387907359
rs387907359
WNT1 ; WNT10B
2 1.000 0.080 12 48981230 missense variant C/T snv 0.700 0
dbSNP: rs12151790
rs12151790 		1 1.000 0.080 2 234302083 regulatory region variant G/A snv 0.13 0.800 1.000 1 2010 2010
dbSNP: rs12808199
rs12808199 		1 1.000 0.080 11 39306409 intergenic variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs13182402
rs13182402
ALDH7A1
4 0.925 0.160 5 126582456 intron variant A/G snv 0.15 0.800 1.000 1 2010 2010
dbSNP: rs17184557
rs17184557
DOK6
1 1.000 0.080 18 69475621 intron variant T/A snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs2062375
rs2062375
COLEC10
2 1.000 0.080 8 118965553 intergenic variant G/C snv 0.65 0.800 1.000 1 2010 2010
dbSNP: rs494453
rs494453
RAP1A ; KRT18P57
1 1.000 0.080 1 111649500 non coding transcript exon variant T/C snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs7227401
rs7227401
OSBPL1A
1 1.000 0.080 18 24358694 intron variant T/G snv 0.69 0.800 1.000 1 2010 2010
dbSNP: rs784288
rs784288
MECOM
2 1.000 0.080 3 169253443 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs11872467
rs11872467
RAB31
1 1.000 0.080 18 9848005 intron variant G/A snv 3.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12775980
rs12775980
SVIL
1 1.000 0.080 10 29570927 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs16965654
rs16965654
RPS16P8
1 1.000 0.080 17 27280666 non coding transcript exon variant G/A snv 1.6E-02 0.700 1.000 1 2010 2010
dbSNP: rs297325
rs297325
SOX6
2 0.925 0.120 11 16368048 intron variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs4756846
rs4756846
SOX6
2 0.925 0.120 11 16381965 intron variant T/C snv 8.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs10085588
rs10085588
SEM1 ; LOC105375411 ; LOC105375412
3 1.000 0.080 7 96508362 intron variant A/G snv 0.72 0.010 1.000 1 2019 2019
dbSNP: rs10203122
rs10203122
FTCDNL1
1 1.000 0.080 2 199831723 intron variant T/C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1038304
rs1038304
CCDC170 ; LOC107986528
4 0.882 0.160 6 151612040 intron variant A/G snv 0.58 0.010 1.000 1 2011 2011
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1044032
rs1044032
SQOR
2 0.925 0.080 15 45676237 missense variant T/C snv 0.24 0.19 0.010 1.000 1 2015 2015
dbSNP: rs104895278
rs104895278
TNFRSF1A
1 1.000 0.080 12 6333469 missense variant C/T snv 2.3E-04 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2009 2009
dbSNP: rs1057317
rs1057317
TLR4
5 0.827 0.160 9 117715764 3 prime UTR variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10832915
rs10832915
SAA1
1 1.000 0.080 11 18269516 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2016 2016
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2013 2013