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: rs10166942
rs10166942
4 0.925 0.040 2 233916448 upstream gene variant T/C snv 0.40 0.870 1.000 10 2011 2019
dbSNP: rs6741751
rs6741751
3 0.925 0.040 2 233919016 intron variant G/A snv 7.8E-02 0.800 1.000 1 2013 2013
dbSNP: rs17862920
rs17862920
1 2 233919350 intron variant C/T snv 9.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs1965629
rs1965629
1 2 233916086 upstream gene variant A/G snv 0.40 0.700 1.000 1 2016 2016