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: rs387907128
rs387907128
PRRT2 ; LOC112268170
2 0.925 0.080 16 29813850 missense variant C/T snv 4.0E-06 7.0E-06 0.800 1.000 7 2011 2016
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
5 0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins 0.700 1.000 10 2011 2015
dbSNP: rs767799831
rs767799831
PAGR1 ; PRRT2
1 1.000 0.080 16 29814366 missense variant G/A;C;T snv 4.1E-06; 4.1E-06 0.700 1.000 6 2011 2016
dbSNP: rs77838305
rs77838305
PRRT2 ; LOC112268170
1 1.000 0.080 16 29813703 stop gained C/A;G;T snv 0.700 1.000 6 2012 2017
dbSNP: rs1301400509
rs1301400509
PAGR1 ; PRRT2
2 0.925 0.080 16 29814412 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1555502708
rs1555502708
PRRT2 ; LOC112268170
1 1.000 0.080 16 29813586 frameshift variant CAAG/- delins 0.700 0
dbSNP: rs1567379016
rs1567379016
PRRT2 ; LOC112268170
3 0.882 0.120 16 29813358 frameshift variant G/- del 0.700 0
dbSNP: rs1567379819
rs1567379819
PRRT2 ; LOC112268170
1 1.000 0.080 16 29813715 stop gained C/T snv 0.700 0
dbSNP: rs387907127
rs387907127
PRRT2 ; LOC112268170
2 0.925 0.120 16 29813541 stop gained C/T snv 0.700 0
dbSNP: rs397514579
rs397514579
PRRT2 ; LOC112268170
2 0.925 0.080 16 29813802 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs397515576
rs397515576
PRRT2 ; LOC112268170
1 1.000 0.080 16 29813562 frameshift variant -/T delins 0.700 0
dbSNP: rs730882065
rs730882065
PRRT2 ; LOC112268170
1 1.000 0.080 16 29813564 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs730882066
rs730882066
PAGR1 ; PRRT2
1 1.000 0.080 16 29814425 frameshift variant A/- del 0.700 0
dbSNP: rs76335820
rs76335820
PRRT2 ; LOC112268170
1 1.000 0.080 16 29813701 missense variant C/A;G;T snv 5.1E-04; 1.5E-04; 6.9E-03 0.700 0
dbSNP: rs932713001
rs932713001
PAGR1 ; PRRT2
1 1.000 0.080 16 29814375 missense variant C/A;T snv 4.1E-06; 4.1E-06 0.700 0
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs387907126
rs387907126
PRRT2 ; LOC112268170
4 0.851 0.120 16 29813772 stop gained C/T snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2020 2020