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: rs121434512
rs121434512
AAMP ; PNKD
2 0.925 0.080 2 218270555 missense variant C/T snv 0.820 1.000 8 2004 2012
dbSNP: rs121434511
rs121434511
AAMP ; PNKD
5 0.882 0.080 2 218270561 missense variant C/T snv 0.820 1.000 7 2004 2011
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
5 0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 2011 2015
dbSNP: rs1220613211
rs1220613211
PNKD ; LOC105373881
2 0.925 0.080 2 218323293 missense variant C/T snv 0.020 1.000 2 2006 2006
dbSNP: rs201173602
rs201173602
MR1
2 0.925 0.080 1 181034024 missense variant C/T snv 2.9E-04 5.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs3897434
rs3897434
MR1
2 0.925 0.080 1 181049214 missense variant C/T snv 1.3E-04 1.2E-04 0.010 1.000 1 2012 2012