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: rs130555
rs130555
SYN3
2 1.000 0.040 22 32787803 intron variant C/T snv 0.77 0.700 1.000 1 2014 2014
dbSNP: rs369113632
rs369113632
PSTPIP1
1 1.000 0.040 15 77037132 missense variant G/A;C snv 1.2E-05; 3.1E-04 0.010 1.000 1 2015 2015