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: rs387907136
rs387907136
C8orf37 ; C8orf37-AS1
0.882 0.080 8 95247712 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C3281045
Disease: CONE-ROD DYSTROPHY 16
CONE-ROD DYSTROPHY 16 		0.800 1.000 0 2012 2012
dbSNP: rs387907136
rs387907136
C8orf37 ; C8orf37-AS1
0.882 0.080 8 95247712 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C4319932
Disease: BARDET-BIEDL SYNDROME 21
BARDET-BIEDL SYNDROME 21 		0.800 1.000 0 2016 2016
dbSNP: rs387907136
rs387907136
C8orf37 ; C8orf37-AS1
0.882 0.080 8 95247712 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0