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: rs1557175789
rs1557175789
FLNA
3 1.000 0.040 X 154351577 splice region variant T/A snv 0.700 0