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: rs4792311
rs4792311
ELAC2
9 0.776 0.160 17 13011692 missense variant G/A;C snv 0.27 0.010 1.000 1 2001 2001
dbSNP: rs5030739
rs5030739
ELAC2
8 0.776 0.160 17 12996585 missense variant C/T snv 3.5E-02 2.9E-02 0.010 1.000 1 2001 2001
dbSNP: rs78105154
rs78105154
ELAC2
2 0.925 0.080 17 12994991 missense variant G/A snv 3.2E-04 7.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2004 2004
dbSNP: rs149709822
rs149709822
KLK3
4 0.882 0.080 19 50856335 missense variant G/A snv 4.0E-05 2.3E-04 0.020 0.500 2 2002 2005
dbSNP: rs1034866440
rs1034866440
AR
4 0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06 0.010 1.000 1 2005 2005
dbSNP: rs137852569
rs137852569
AR
10 0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 0.010 1.000 1 2005 2005
dbSNP: rs9332964
rs9332964
SRD5A2
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2005 2005
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2007 2007
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs2011077
rs2011077
FGFR4
8 0.807 0.080 5 177094455 intron variant C/T snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2008 2008
dbSNP: rs680055
rs680055
CYP3A43
5 0.851 0.120 7 99859982 missense variant C/A;G snv 6.5E-02 0.13 0.010 1.000 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2009 2009
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 2010 2010
dbSNP: rs2297518
rs2297518
NOS2
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2010 2010
dbSNP: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs103294
rs103294 		7 0.827 0.200 19 54293995 downstream gene variant T/C snv 0.82 0.010 1.000 1 2013 2013
dbSNP: rs1047100
rs1047100
FGFR2
1 1.000 0.040 10 121538644 synonymous variant T/A;C snv 1.2E-05; 0.78 0.010 1.000 1 2013 2013
dbSNP: rs12621278
rs12621278
ITGA6
7 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs12653946
rs12653946
CTD-2194D22.4
5 0.882 0.080 5 1895715 intron variant C/T snv 0.43 0.010 1.000 1 2013 2013
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2013 2013
dbSNP: rs333
rs333
CCR5 ; CCR5AS
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs339331
rs339331
RFX6
4 0.882 0.080 6 116888889 intron variant T/C snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs10035432
rs10035432
C5orf46
1 1.000 0.040 5 147855193 upstream gene variant G/A snv 0.18 0.010 1.000 1 2015 2015