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: rs76987554
rs76987554
4 6 133759717 intron variant C/T snv 2.9E-02 0.700 1.000 3 2017 2018
dbSNP: rs12194247
rs12194247
1 6 133675398 intron variant C/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs2327429
rs2327429
4 0.882 0.120 6 133888699 non coding transcript exon variant T/C snv 0.24 0.700 1.000 1 2019 2019