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: rs1566945534
rs1566945534
SLC24A1 ; LOC102723464
1.000 0.080 15 65624175 stop gained T/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs777989874
rs777989874
SLC24A1
0.925 0.080 15 65624834 frameshift variant AT/- del 1.0E-04 1.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0