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: rs10503253
rs10503253
5 0.851 0.040 8 4323322 intron variant C/A snv 0.18 0.850 0.889 9 2011 2017
dbSNP: rs10503256
rs10503256
1 1.000 0.040 8 4356657 intron variant A/G snv 0.57 0.800 1.000 2 2011 2012
dbSNP: rs12541020
rs12541020
1 1.000 0.040 8 4960070 intron variant T/A;C snv 0.700 1.000 2 2017 2019
dbSNP: rs13261217
rs13261217
1 1.000 0.040 8 4325535 non coding transcript exon variant A/G snv 0.26 0.700 1.000 2 2017 2019
dbSNP: rs10046758
rs10046758
1 1.000 0.040 8 4326648 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs139425113
rs139425113
1 1.000 0.040 8 4323090 intron variant A/-;AA;AAA delins 0.700 1.000 1 2018 2018
dbSNP: rs17067182
rs17067182
1 1.000 0.040 8 3729296 intron variant G/A snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs6558872
rs6558872
3 0.882 0.040 8 4380617 intron variant G/A;C snv 0.700 1.000 1 2013 2013