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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 2005 2014
dbSNP: rs11898505
rs11898505
SPTBN1
2 2 54457420 intron variant A/G snv 0.76 0.020 1.000 2 2010 2013
dbSNP: rs2073618
rs2073618
TNFRSF11B ; COLEC10
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.020 1.000 2 2008 2017
dbSNP: rs6469804
rs6469804
COLEC10
2 8 119032590 intron variant G/A;C snv 0.020 1.000 2 2010 2017
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: rs1107748
rs1107748
LINC02594
3 1.000 0.080 17 43696446 intron variant T/C snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs1213308971
rs1213308971
DMD
1 X 31348599 missense variant T/A snv 5.5E-06 0.010 1.000 1 2006 2006
dbSNP: rs12475342
rs12475342
SPTBN1
1 2 54655541 intron variant G/A snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs13182402
rs13182402
ALDH7A1
4 0.925 0.160 5 126582456 intron variant A/G snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs1427938321
rs1427938321
DMD
1 X 32365095 missense variant T/A snv 5.5E-06 0.010 1.000 1 2006 2006
dbSNP: rs1643821
rs1643821
ESR1
2 6 151862416 intron variant G/A snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs17790156
rs17790156
LRP4
1 11 46883767 intron variant A/T snv 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2006 2006
dbSNP: rs1800012
rs1800012
COL1A1
13 0.763 0.320 17 50200388 intron variant C/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1800544
rs1800544
ADRA2A
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2005 2005
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs270611
rs270611
PDLIM4 ; P4HA2
1 5 132256377 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs281865264
rs281865264
BEST1 ; LOC107984334
2 1.000 0.080 11 61959539 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2908004
rs2908004
WNT16
4 1.000 0.040 7 121329715 missense variant G/A;T snv 0.44; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2941584
rs2941584
SPTBN1
1 2 54654484 intron variant T/C snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs3102734
rs3102734
TNFRSF11B ; COLEC10
3 0.925 0.080 8 118951777 intron variant G/A snv 7.3E-02 9.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs3102735
rs3102735
TNFRSF11B ; COLEC10
12 0.752 0.400 8 118952831 upstream gene variant T/C snv 0.17 0.010 1.000 1 2017 2017