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: rs6911827
rs6911827
1 6 22130372 intron variant C/G;T snv 0.700 1.000 2 2017 2019
dbSNP: rs2744133
rs2744133
1 6 22392031 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4712656
rs4712656
4 1.000 0.040 6 22136033 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2017 2017