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: rs2070584
rs2070584
SYN1 ; TIMP1 ; MIR4769
8 0.790 0.200 X 47587120 intron variant T/G snv 0.44 0.010 1.000 1 2013 2013