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: rs10937158
rs10937158
ABCC5
1 3 183990651 intron variant T/C snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs138978736
rs138978736
CYP2A6
1 19 40846991 missense variant G/T snv 6.7E-04 1.2E-03 0.010 1.000 1 2017 2017
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2008 2008
dbSNP: rs3749438
rs3749438
ABCC5
1 3 183987396 3 prime UTR variant G/A snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs60823196
rs60823196
CYP2A6
1 19 40846027 missense variant C/A;G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2009 2009