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: rs2377005
rs2377005
TIMP2 ; CEP295NL
1 1.000 0.040 17 78874211 intron variant A/G snv 0.93 0.010 < 0.001 1 2019 2019