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: rs13256367
rs13256367
1 8 127322655 intron variant A/C;T snv 0.700 1.000 2 2018 2019
dbSNP: rs191785584
rs191785584
1 8 127171626 intron variant A/G snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs620861
rs620861
3 0.925 0.080 8 127323428 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019