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: rs6981691
rs6981691
VPS13B
2 8 99843615 intron variant C/T snv 3.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs7827408
rs7827408
VPS13B
3 8 99527615 intron variant C/T snv 2.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs6459512
rs6459512
OFCC1
2 6 9933437 intron variant G/A snv 3.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs11568767
rs11568767
TGFBR1
4 9 99132990 intron variant C/T snv 3.7E-03 0.700 1.000 1 2012 2012
dbSNP: rs11568746
rs11568746
TGFBR1
6 9 99105926 intron variant C/G snv 2.1E-05 0.700 1.000 1 2012 2012
dbSNP: rs2229459
rs2229459
BDKRB1
2 14 96264431 missense variant C/T snv 2.9E-04 3.9E-04 0.700 1.000 1 2012 2012
dbSNP: rs12428035
rs12428035 		3 13 95648618 upstream gene variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs328996
rs328996
RALBP1
2 18 9526186 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs329007
rs329007
RALBP1
2 18 9522608 intron variant G/A snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs9590177
rs9590177
ABCC4
2 13 95083956 intron variant C/T snv 3.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs56871159
rs56871159
SERPINA3
2 14 94614449 missense variant G/A;C;T snv 1.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs1144302
rs1144302
F3
2 1 94534558 intron variant C/T snv 4.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs598962
rs598962
ABCD3
3 1 94451093 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs9584224
rs9584224
GPC6
2 13 94403472 3 prime UTR variant G/A snv 4.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs17580
rs17580
SERPINA1
14 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.700 1.000 2 2018 2018
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs17110922
rs17110922
ABCA4
2 1 94043489 intron variant A/T snv 2.5E-03 9.9E-03 0.700 1.000 1 2012 2012
dbSNP: rs12087003
rs12087003
ABCA4
3 1 94037627 intron variant A/G snv 6.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs11806129
rs11806129
ABCA4
3 1 94016821 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2126259
rs2126259
LOC157273
9 1.000 8 9327636 intron variant T/C snv 0.87 0.800 1.000 2 2010 2018
dbSNP: rs6601299
rs6601299
LOC157273
5 0.925 0.040 8 9327181 intron variant T/C snv 0.88 0.700 1.000 1 2018 2018
dbSNP: rs4240624
rs4240624
LOC157273
5 0.882 0.040 8 9326721 intron variant G/A snv 0.87 0.700 1.000 1 2019 2019
dbSNP: rs4841132
rs4841132
LOC157273
14 8 9326086 non coding transcript exon variant A/G snv 0.89 0.700 1.000 2 2018 2019
dbSNP: rs9987289
rs9987289
LOC157273
10 1.000 0.040 8 9325848 non coding transcript exon variant A/G snv 0.87 0.800 1.000 6 2010 2019
dbSNP: rs2169387
rs2169387
LOC157273
6 8 9323885 intron variant A/G snv 0.87 0.700 1.000 3 2015 2018