Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554270834
rs1554270834
PRPH2
1 6 42722069 frameshift variant GCTGGGTC/- del 0.700 1.000 1 2014 2014