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: rs104894474
rs104894474
GPHN ; RDH12
0.882 0.080 14 67726086 stop gained G/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs104894475
rs104894475
GPHN ; RDH12
0.925 0.080 14 67726983 missense variant C/A;G snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs1239043055
rs1239043055
GPHN ; ZFYVE26 ; RDH12
0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs202126574
rs202126574
GPHN ; RDH12
0.882 0.080 14 67726084 missense variant C/T snv 1.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs28940315
rs28940315
GPHN ; RDH12
0.925 0.080 14 67725206 missense variant C/A snv 6.4E-05 3.5E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs387906272
rs387906272
GPHN ; RDH12
0.925 0.080 14 67727191 splice donor variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs527236099
rs527236099
GPHN ; ZFYVE26 ; RDH12
1.000 0.080 14 67729308 frameshift variant G/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0