Source: CLINVAR

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: rs387907137
rs387907137
C8orf37 ; C8orf37-AS1
0.882 0.080 8 95247696 missense variant T/C snv
CUI: C3281046
Disease: RETINITIS PIGMENTOSA 64
RETINITIS PIGMENTOSA 64 		0.700 0
dbSNP: rs387907137
rs387907137
C8orf37 ; C8orf37-AS1
0.882 0.080 8 95247696 missense variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0