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: rs10512627
rs10512627
1 3 124621375 intron variant G/C snv 0.43 0.800 1.000 1 2011 2011
dbSNP: rs11920280
rs11920280
1 3 124618265 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs56106611
rs56106611
1 3 124658479 missense variant T/G snv 7.1E-03 7.6E-03 0.700 1.000 1 2016 2016