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: rs121912550
rs121912550
IMPDH1
0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		0.710 1.000 0 2006 2006