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: rs387907125
rs387907125
PAGR1 ; PRRT2
1 1.000 0.120 16 29814403 missense variant G/A snv 0.800 1.000 2 2012 2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
5 0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins 0.700 1.000 5 2011 2015
dbSNP: rs1567379016
rs1567379016
PRRT2 ; LOC112268170
3 0.882 0.120 16 29813358 frameshift variant G/- del 0.700 0
dbSNP: rs1567380076
rs1567380076
PRRT2 ; LOC112268170
1 1.000 0.120 16 29813851 frameshift variant G/- delins 0.700 0
dbSNP: rs387907126
rs387907126
PRRT2 ; LOC112268170
4 0.851 0.120 16 29813772 stop gained C/T snv 4.2E-06 0.700 0
dbSNP: rs387907127
rs387907127
PRRT2 ; LOC112268170
2 0.925 0.120 16 29813541 stop gained C/T snv 0.700 0
dbSNP: rs397514578
rs397514578
PRRT2 ; LOC112268170
1 1.000 0.120 16 29813616 stop gained C/T snv 0.700 0
dbSNP: rs730882067
rs730882067
PRRT2 ; LOC112268170
3 0.882 0.120 16 29813677 splice acceptor variant C/-;CC delins 0.700 0
dbSNP: rs730882068
rs730882068
PRRT2 ; LOC112268170
1 1.000 0.120 16 29813569 frameshift variant -/T delins 0.700 0