Gene: PRPH2 ×
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: rs61755800
rs61755800
PRPH2
3 0.882 0.080 6 42704559 missense variant T/C;G snv 8.0E-06 0.710 1.000 2 1993 2008
dbSNP: rs61755793
rs61755793
PRPH2
6 0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1554268546
rs1554268546
PRPH2
1 1.000 0.080 6 42698469 frameshift variant CGACGTCT/- del 0.700 0
dbSNP: rs1554269053
rs1554269053
PRPH2
2 1.000 0.080 6 42704529 missense variant A/G snv 0.700 0
dbSNP: rs1554269081
rs1554269081
PRPH2
1 1.000 0.080 6 42704581 stop gained G/C snv 0.700 0
dbSNP: rs527236097
rs527236097
PRPH2
1 1.000 0.080 6 42721925 missense variant C/T snv 0.700 0
dbSNP: rs527236098
rs527236098
PRPH2
2 0.925 0.080 6 42721836 missense variant C/T snv 0.700 0
dbSNP: rs61755806
rs61755806
PRPH2
3 0.882 0.080 6 42704546 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs61755817
rs61755817
PRPH2
1 1.000 0.080 6 42704457 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs121918563
rs121918563
PRPH2
6 0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs139185976
rs139185976
PRPH2
3 0.882 0.080 6 42704570 missense variant C/T snv 4.8E-05 9.8E-05 0.010 1.000 1 1998 1998
dbSNP: rs61755771
rs61755771
PRPH2
5 0.827 0.160 6 42722199 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 1995 1995
dbSNP: rs61755781
rs61755781
PRPH2
4 0.851 0.080 6 42721913 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs61755789
rs61755789
PRPH2
2 0.925 0.080 6 42721835 missense variant C/T snv 0.010 1.000 1 1994 1994
dbSNP: rs61755797
rs61755797
PRPH2
3 0.882 0.080 6 42704565 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs61755798
rs61755798
PRPH2
6 0.827 0.080 6 42704564 missense variant G/A;C snv 0.010 1.000 1 2001 2001
dbSNP: rs61755805
rs61755805
PRPH2
3 0.882 0.080 6 42704547 missense variant G/A snv 0.010 1.000 1 1997 1997
dbSNP: rs61755809
rs61755809
PRPH2
2 0.925 0.080 6 42704535 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs62645935
rs62645935
PRPH2
2 0.925 0.080 6 42704396 missense variant C/T snv 0.010 1.000 1 2014 2014