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: rs515071
rs515071
1 1.000 0.080 8 41661944 splice region variant A/G;T snv 0.78 0.840 1.000 1 2012 2017
dbSNP: rs516946
rs516946
1 1.000 0.080 8 41661730 non coding transcript exon variant T/A;C snv 0.78 0.820 1.000 4 2012 2018
dbSNP: rs508419
rs508419
1 1.000 0.080 8 41665473 non coding transcript exon variant A/C;G snv 0.720 1.000 1 2016 2019
dbSNP: rs33981001
rs33981001
1 1.000 0.080 8 41655130 3 prime UTR variant GTGTGTGT/-;GT;GTGT;GTGTGT;GTGTGTGTGT;GTGTGTGTGTGT;GTGTGTGTGTGTGT;GTGTGTGTGTGTGTGT;GTGTGTGTGTGTGTGTGT delins 0.44 0.700 1.000 1 2019 2019