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: rs143083812
rs143083812
SMO
1 1.000 0.040 7 129203569 missense variant C/T snv 4.1E-04 3.5E-04 0.710 1.000 1 2018 2018
dbSNP: rs4733724
rs4733724
GSDMC
2 1.000 0.040 8 129711482 intron variant A/G snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs60890741
rs60890741
GSDMC
1 1.000 0.040 8 129756257 intron variant -/A;AA delins 0.700 1.000 1 2019 2019
dbSNP: rs1913707
rs1913707 		2 0.925 0.040 4 13037816 intergenic variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs11780978
rs11780978
PLEC
2 1.000 0.040 8 143960684 intron variant G/A snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs12040949
rs12040949
RPRD2
1 1.000 0.040 1 150474986 3 prime UTR variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11718863
rs11718863
COL6A4P1
3 0.882 0.080 3 15175196 non coding transcript exon variant A/G;T snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs11732213
rs11732213
SLBP
2 0.925 0.040 4 1702517 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs3884606
rs3884606
FGF18
2 0.925 0.040 5 171444070 intron variant G/A snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs798748
rs798748
SLBP ; TACC3
1 1.000 0.040 4 1715043 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs62406718
rs62406718
BTNL8
2 0.925 0.040 5 180923167 intron variant A/C;G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs302152
rs302152
HDAC9
1 1.000 0.040 7 18224045 intron variant A/T snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs7775
rs7775
FRZB
14 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 0.030 1.000 3 2004 2009
dbSNP: rs288326
rs288326
FRZB
9 0.807 0.120 2 182838608 missense variant G/A snv 8.2E-02 8.3E-02 0.030 1.000 3 2006 2012
dbSNP: rs11764536
rs11764536
HDAC9
1 1.000 0.040 7 18370370 intron variant A/C snv 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs11583641
rs11583641
COLGALT2
1 1.000 0.040 1 183937111 3 prime UTR variant C/A;T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs12470967
rs12470967
LOC729254
2 0.925 0.040 2 191807255 intron variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs3806557
rs3806557
WNT10A
1 1.000 0.040 2 218879152 upstream gene variant G/A snv 0.31 0.010 < 0.001 1 2013 2013
dbSNP: rs2820436
rs2820436
LYPLAL1-AS1
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs2785988
rs2785988 		2 0.925 0.040 1 219570796 intergenic variant C/A snv 0.23 0.700 1.000 2 2018 2019
dbSNP: rs2820443
rs2820443 		8 0.882 0.120 1 219580167 regulatory region variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2010 2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs115740542
rs115740542
H2AC6 ; H2BC4
2 0.925 0.040 6 26123274 intron variant T/C snv 3.6E-02 0.700 1.000 1 2019 2019