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: rs113485015
rs113485015
1.000 2 112001214 missense variant G/A snv 1.8E-03 6.9E-03
CUI: C3151228
Disease: RETINITIS PIGMENTOSA 38 (disorder)
RETINITIS PIGMENTOSA 38 (disorder)
0.700 0
dbSNP: rs377341255
rs377341255
1.000 2 112028476 missense variant T/C snv 1.8E-04 1.2E-04
CUI: C3151228
Disease: RETINITIS PIGMENTOSA 38 (disorder)
RETINITIS PIGMENTOSA 38 (disorder)
0.700 0