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: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.030 1.000 3 2012 2016
dbSNP: rs104893908
rs104893908
2 0.925 0.160 5 143295561 missense variant T/A snv 0.010 1.000 1 2015 2015
dbSNP: rs104893909
rs104893909
2 0.925 0.160 5 143300556 missense variant A/T snv 0.010 1.000 1 2012 2012
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2016 2016