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: rs761630818
rs761630818
SOX3
1 1.000 0.160 X 140503879 synonymous variant G/T snv 0.010 1.000 1 2000 2000