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: rs1036980234
rs1036980234
PTCH1
6 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs10380
rs10380
MTRR
6 0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18 0.010 1.000 1 2014 2014
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: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1041983
rs1041983
NAT2
15 0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1042031
rs1042031
APOB
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1042638
rs1042638
TPD52
2 0.925 0.080 8 80037711 3 prime UTR variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs1042839
rs1042839
PGR
2 0.925 0.080 11 101051471 synonymous variant G/A snv 0.13 0.11 0.010 1.000 1 2008 2008
dbSNP: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 < 0.001 1 2004 2004
dbSNP: rs10439478
rs10439478
ACYP2
2 0.925 0.080 2 54232313 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1044129
rs1044129
RYR3 ; AVEN
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1044484322
rs1044484322
CASP8
2 0.925 0.080 2 201271565 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1045012
rs1045012
ARPC1B
2 0.925 0.080 7 99386731 missense variant G/C snv 5.6E-02 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs1045411
rs1045411
HMGB1
18 0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs1045494
rs1045494
CASP8
3 0.882 0.120 2 201287058 3 prime UTR variant T/C snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs10462028
rs10462028
CLOCK ; TMEM165
4 0.882 0.120 4 55432133 3 prime UTR variant G/A snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs10463297
rs10463297
SRA1
2 0.925 0.080 5 140556654 intron variant T/C snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs1046428
rs1046428
GSTZ1
8 0.776 0.200 14 77327940 missense variant T/A;C snv 4.0E-06; 0.81 0.010 1.000 1 2010 2010
dbSNP: rs10477313
rs10477313
PPP2R2B
2 0.925 0.080 5 146854076 intron variant C/T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.010 1.000 1 2018 2018
dbSNP: rs1047769
rs1047769
ERCC5 ; BIVM-ERCC5
2 0.925 0.080 13 102861594 missense variant A/G snv 3.0E-02 2.5E-02 0.010 1.000 1 2008 2008
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2009 2009
dbSNP: rs1048249612
rs1048249612
CHEK1
2 0.925 0.080 11 125629291 missense variant G/A snv 0.010 1.000 1 2003 2003