Source: ALL
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: rs104895334
rs104895334
MVK ; MMAB
1 1.000 0.200 12 109574838 frameshift variant CTACTGGTGTCTGCTCCGG/- del 0.700 0
dbSNP: rs372446928
rs372446928
NUP62 ; IL4I1
2 0.925 0.200 19 49909008 missense variant G/A snv 1.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs753716740
rs753716740
NUP62 ; IL4I1
2 0.925 0.200 19 49909002 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs185313167
rs185313167
SQSTM1
2 0.925 0.200 5 179833083 missense variant C/T snv 8.0E-06 0.010 1.000 1 2017 2017