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: rs7578597
rs7578597
2 0.807 0.240 2 43505684 missense variant T/C snv 9.9E-02 0.14 0.840 1.000 4 2008 2017
dbSNP: rs10203174
rs10203174
1 1.000 0.080 2 43462891 intron variant C/T snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs11899863
rs11899863
1 1.000 0.080 2 43391680 intron variant C/T snv 8.5E-02 0.700 1.000 1 2012 2012