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: rs62378245
rs62378245
3 1.000 0.040 5 89448145 intron variant C/T snv 0.25 0.700 1.000 4 2015 2019
dbSNP: rs16867576
rs16867576
1 1.000 0.040 5 89450514 intron variant A/G snv 0.18 0.700 1.000 3 2014 2019
dbSNP: rs76994193
rs76994193
2 1.000 0.040 5 89131520 intron variant A/C;G snv 0.700 1.000 1 2017 2017