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: rs11170829
rs11170829
2 0.925 0.040 12 54148144 intron variant G/A snv 4.5E-03 0.700 1.000 1 2018 2018