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: rs587778771
rs587778771
PRRT2 ; LOC112268170
5 0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins 0.700 1.000 12 2011 2015
dbSNP: rs730882067
rs730882067
PRRT2 ; LOC112268170
3 0.882 0.120 16 29813677 splice acceptor variant C/-;CC delins 0.700 1.000 4 2012 2016
dbSNP: rs1064793851
rs1064793851
PRRT2 ; LOC112268170
1 1.000 0.040 16 29813653 frameshift variant TCAC/- delins 0.700 1.000 3 2012 2015
dbSNP: rs387907126
rs387907126
PRRT2 ; LOC112268170
4 0.851 0.120 16 29813772 stop gained C/T snv 4.2E-06 0.700 1.000 3 2012 2013
dbSNP: rs1555502908
rs1555502908
PAGR1 ; PRRT2
1 1.000 0.040 16 29814425 frameshift variant AGTC/- del 0.700 1.000 1 2012 2012
dbSNP: rs796052941
rs796052941
PAGR1 ; PRRT2
1 1.000 0.040 16 29814419 frameshift variant G/-;GG delins 1.4E-05 0.700 0