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: rs1439287
rs1439287
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
2 0.925 0.120 2 111114320 non coding transcript exon variant G/A snv 0.42 0.700 1.000 1 2014 2014