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: rs1064793013
rs1064793013
ABCA4
1.000 0.080 1 94008300 splice region variant G/A;T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0