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: rs144899207
rs144899207
1 16 79719674 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs57652769
rs57652769
1 16 79720079 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs73575095
rs73575095
1 16 79716435 non coding transcript exon variant T/C snv 0.28 0.700 1.000 1 2019 2019