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: rs1006935198
rs1006935198
GUCY2D
3 0.882 0.080 17 8015048 stop gained C/G snv 0.700 0
dbSNP: rs61755783
rs61755783
PRPH2
11 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.030 1.000 3 2002 2018
dbSNP: rs121918567
rs121918567
PRPH2
6 0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06 0.020 1.000 2 2006 2011
dbSNP: rs147346345
rs147346345
CDHR1
2 1.000 0.040 10 84203123 splice region variant G/A;C;T snv 2.9E-03; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs61755793
rs61755793
PRPH2
6 0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009