PLLP, plasmolipin, 51090

N. diseases: 10; N. variants: 3
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: rs398123053
rs398123053
1.000 16 57248570 missense variant T/C;G snv 2.1E-05
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
0.800 0
dbSNP: rs80305714
rs80305714
16 57254284 3 prime UTR variant A/T snv 3.0E-02
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2018 2018
dbSNP: rs199830550
rs199830550
1.000 16 57248644 splice donor variant G/A;C;T snv 1.2E-04; 4.6E-06; 4.6E-06
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
0.700 0
dbSNP: rs199830550
rs199830550
1.000 16 57248644 splice donor variant G/A;C;T snv 1.2E-04; 4.6E-06; 4.6E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
Eye Diseases 0.700 0