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: rs2241880
rs2241880
1 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.900 0.961 4 2007 2020
dbSNP: rs3792109
rs3792109
1 1.000 0.040 2 233275771 non coding transcript exon variant G/A snv 0.45 0.42 0.800 1.000 2 2010 2013