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: rs1238539471
rs1238539471
2 1.000 0.040 16 50710637 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1367967034
rs1367967034
2 1.000 0.040 16 50707959 splice region variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010