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: rs7464572
rs7464572
3 8 143946999 intron variant C/A;G snv 0.800 1.000 2 2013 2017
dbSNP: rs11780978
rs11780978
2 1.000 0.040 8 143960684 intron variant G/A snv 0.30 0.700 1.000 1 2016 2016