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: rs6080550
rs6080550
LOC100289473
5 0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 0.700 1.000 1 2011 2011