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: rs191000678
rs191000678
1 12 28134057 intron variant A/T snv 1.6E-03 0.700 1.000 1 2015 2015
dbSNP: rs200840970
rs200840970
1 12 28444850 intron variant TT/-;T;TTT delins 2.4E-03 0.700 1.000 1 2015 2015
dbSNP: rs2348418
rs2348418
2 12 28536581 intron variant T/C snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs7977418
rs7977418
3 12 28435309 intron variant T/C snv 0.40 0.700 1.000 1 2019 2019