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: rs62525059
rs62525059
GML
4 8 142901545 intron variant G/A snv 0.34 0.700 1.000 2 2018 2018
dbSNP: rs3802228
rs3802228
1 8 142910802 3 prime UTR variant A/G snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs3802230
rs3802230
3 1.000 0.040 8 142911448 3 prime UTR variant C/A snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs6418
rs6418
4 8 142914947 intron variant A/C;G snv 0.42 0.700 1.000 1 2018 2018