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: rs8176071
rs8176071
1 17 43125988 intron variant -/GTT delins 0.31 0.700 1.000 1 2018 2018
dbSNP: rs1760940
rs1760940
PNP
1 14 20470092 intron variant A/C snv 0.22 0.800 1.000 2 2012 2019
dbSNP: rs10840614
rs10840614
1 12 121753584 intron variant A/C snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs12196873
rs12196873
2 6 111276855 3 prime UTR variant A/C snv 0.10 0.700 1.000 1 2015 2015
dbSNP: rs1528753
rs1528753
1 11 91151171 intergenic variant A/C snv 0.70 0.700 1.000 1 2007 2007
dbSNP: rs17650301
rs17650301
3 0.925 0.120 17 64483156 intron variant A/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs2720044
rs2720044
1 8 38123069 intron variant A/C snv 0.12 0.700 1.000 1 2015 2015
dbSNP: rs4843747
rs4843747
1 16 87957445 intron variant A/C snv 0.83 0.800 1.000 1 2009 2009
dbSNP: rs1837988
rs1837988
1 22 38505089 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2304192
rs2304192
1 19 3933316 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs58387006
rs58387006
1 2 32354931 upstream gene variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs314277
rs314277
6 0.925 0.080 6 104959787 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs77100210
rs77100210
1 12 10723329 upstream gene variant A/C;T snv 3.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs9915489
rs9915489
1 17 43021209 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11668344
rs11668344
4 0.925 0.120 19 55322296 intron variant A/G snv 0.35 0.800 1.000 3 2012 2015
dbSNP: rs2384687
rs2384687
1 19 55319820 non coding transcript exon variant A/G snv 0.38 0.700 1.000 2 2009 2013
dbSNP: rs4693089
rs4693089
2 4 83452469 intron variant A/G snv 0.60 0.800 1.000 2 2012 2015
dbSNP: rs75770066
rs75770066
1 12 66310445 missense variant A/G snv 3.1E-02 2.5E-02 0.700 1.000 2 2015 2019
dbSNP: rs897798
rs897798
1 19 55322386 intron variant A/G snv 0.46 0.700 1.000 2 2009 2013
dbSNP: rs10813912
rs10813912
1 9 32975212 non coding transcript exon variant A/G snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs11597068
rs11597068
1 10 123228637 intergenic variant A/G snv 0.11 0.800 1.000 1 2014 2014
dbSNP: rs11738223
rs11738223
1 5 172507488 intron variant A/G snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs11935767
rs11935767
1 4 100093652 intron variant A/G snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs12824058
rs12824058
1 12 130319789 intergenic variant A/G snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs13040088
rs13040088
1 20 62917850 intron variant A/G snv 0.19 0.700 1.000 1 2015 2015