Gene: PRPH2 ×
Source: CLINVAR ×
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
1 0.882 0.080 6 42704559 missense variant T/C;G snv 8.0E-06 0.710 1.000 1 1993 2008
dbSNP: rs61755793
rs61755793
PRPH2
3 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
1 0.925 0.080 6 42721836 missense variant C/T snv 0.700 0
dbSNP: rs61755806
rs61755806
PRPH2
2 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