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: 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: C3281045
Disease: CONE-ROD DYSTROPHY 16
CONE-ROD DYSTROPHY 16 		0.800 1.000 0 2012 2012
dbSNP: rs1060505042
rs1060505042
C8orf37 ; C8orf37-AS1
1.000 8 95260534 splice acceptor variant T/G snv 7.0E-06
CUI: C3281046
Disease: RETINITIS PIGMENTOSA 64
RETINITIS PIGMENTOSA 64 		0.700 0
dbSNP: rs1064792852
rs1064792852
C8orf37 ; C8orf37-AS1
1.000 8 95247744 stop gained A/C;T snv 4.0E-06; 8.0E-06
CUI: C3281046
Disease: RETINITIS PIGMENTOSA 64
RETINITIS PIGMENTOSA 64 		0.700 0
dbSNP: rs1064792853
rs1064792853
C8orf37 ; C8orf37-AS1
1.000 8 95263776 splice acceptor variant T/C snv
CUI: C3281045
Disease: CONE-ROD DYSTROPHY 16
CONE-ROD DYSTROPHY 16 		0.700 0
dbSNP: rs1085307121
rs1085307121
C8orf37 ; C8orf37-AS1
1.000 8 95269033 splice donor variant A/G snv
CUI: C3281045
Disease: CONE-ROD DYSTROPHY 16
CONE-ROD DYSTROPHY 16 		0.700 0
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
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
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: rs748014296
rs748014296
C8orf37 ; C8orf37-AS1
1.000 8 95247686 stop gained C/T snv 8.0E-06
CUI: C3281046
Disease: RETINITIS PIGMENTOSA 64
RETINITIS PIGMENTOSA 64 		0.700 0
dbSNP: rs766087213
rs766087213
C8orf37 ; C8orf37-AS1
1.000 8 95260472 stop gained T/A snv 8.8E-06
CUI: C4319932
Disease: BARDET-BIEDL SYNDROME 21
BARDET-BIEDL SYNDROME 21 		0.700 0