PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918563
rs121918563
0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18
0.700 0
dbSNP: rs61755802
rs61755802
1.000 0.040 6 42704556 missense variant A/G snv 4.0E-06
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18
0.700 0