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: rs267607581
rs267607581
4 0.925 0.080 1 156137651 splice region variant C/G snv 0.700 1.000 4 1996 2017
dbSNP: rs57508089
rs57508089
3 1.000 0.080 1 156136110 synonymous variant C/T snv 0.700 1.000 4 2007 2017
dbSNP: rs267607592
rs267607592
2 1.000 0.080 1 156137233 splice donor variant G/A snv 0.700 1.000 2 2005 2009