Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906646
rs387906646
1.000 6 10808913 missense variant T/G snv
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.800 1.000 2 2011 2011
dbSNP: rs387906647
rs387906647
1.000 6 10830612 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.800 1.000 2 2011 2011
dbSNP: rs387906648
rs387906648
0.925 0.080 6 10803886 missense variant C/T snv 2.1E-05
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.800 1.000 2 2011 2011
dbSNP: rs750559316
rs750559316
1.000 6 10803841 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.700 1.000 2 2011 2011
dbSNP: rs754916169
rs754916169
1.000 6 10830570 missense variant C/G;T snv 2.4E-05; 2.4E-05
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.700 1.000 2 2011 2011