Source: ALL
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: rs4846048
rs4846048
MTHFR ; C1orf167
10 0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs532545
rs532545
CDA
3 0.882 0.160 1 20588679 upstream gene variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs75267292
rs75267292
DPYD
1 1.000 0.080 1 97335751 intron variant A/G snv 2.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs7548189
rs7548189
DPYD
4 0.882 0.160 1 97402157 intron variant C/A snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs9936750
rs9936750 		1 1.000 0.080 16 55137962 intergenic variant T/C snv 0.15 0.010 1.000 1 2014 2014