Source: BEFREE ×
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: rs137852902
rs137852902
ANTXR2
1 1.000 0.080 4 80055996 missense variant C/T snv 0.810 1.000 1 2003 2005
dbSNP: rs1173040945
rs1173040945
ANTXR2
1 1.000 0.080 4 80055957 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs117876855
rs117876855 		1 1.000 0.080 13 81865224 intergenic variant A/G snv 1.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs139544515
rs139544515
LOC105370284
1 1.000 0.080 13 81823326 intergenic variant A/G snv 1.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs148221738
rs148221738
MACF1
1 1.000 0.080 1 39390663 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs183324967
rs183324967
MACF1
1 1.000 0.080 1 39367374 intron variant T/A snv 3.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs2606241
rs2606241
TYMS ; TYMSOS
1 1.000 0.080 18 657443 intron variant A/C snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs2612091
rs2612091
ENOSF1
3 0.882 0.160 18 683607 intron variant C/T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs2741171
rs2741171
ENOSF1
1 1.000 0.080 18 700687 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2853741
rs2853741
TYMS ; TYMSOS
1 1.000 0.080 18 657352 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs3215400
rs3215400
CDA
1 1.000 0.080 1 20589097 5 prime UTR variant C/- delins 0.54 0.56 0.010 1.000 1 2011 2011
dbSNP: rs3737964
rs3737964
CLCN6 ; MTHFR
1 1.000 0.080 1 11806987 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019
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