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: rs405509
rs405509
9 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.900 0.950 9 2009 2019
dbSNP: rs429358
rs429358
29 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.890 0.933 6 2005 2019
dbSNP: rs7259620
rs7259620
1 0.925 0.120 19 44904531 upstream gene variant G/A;C snv 0.800 1.000 2 2013 2019
dbSNP: rs769446
rs769446
4 0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02 0.740 1.000 1 2009 2018
dbSNP: rs449647
rs449647
1 0.925 0.120 19 44905307 upstream gene variant A/T snv 0.21 0.730 1.000 1 2009 2018
dbSNP: rs7412
rs7412
23 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.720 1.000 3 2011 2019
dbSNP: rs1081105
rs1081105
1 1.000 0.080 19 44909698 non coding transcript exon variant A/C snv 3.0E-02 0.700 1.000 2 2018 2019
dbSNP: rs769449
rs769449
10 0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02 0.700 1.000 2 2013 2019
dbSNP: rs769450
rs769450
4 0.925 0.120 19 44907187 non coding transcript exon variant G/A snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs769452
rs769452
2 0.925 0.160 19 44907853 missense variant T/C snv 2.5E-03 1.9E-03 0.700 1.000 1 2019 2019