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: rs121918256
rs121918256
MMUT
1 0.925 0.080 6 49457789 missense variant T/A snv 6.8E-05 2.8E-05 0.720 1.000 2 2001 2009
dbSNP: rs121918258
rs121918258
MMUT
3 0.851 0.200 6 49457801 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs546099787
rs546099787
MMACHC ; CCDC163
1 1.000 0.160 1 45500412 missense variant A/G snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs727504020
rs727504020
MMUT
3 0.882 0.200 6 49451591 stop gained G/A;C snv 4.0E-05; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs748129702
rs748129702
MMUT
2 1.000 0.080 6 49451555 stop gained C/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs764173488
rs764173488
MMUT
2 0.925 0.200 6 49447749 stop gained A/T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs78150750
rs78150750
MMUT
1 6 49444685 stop gained C/A;T snv 8.0E-06; 7.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs796052008
rs796052008
MMUT
1 6 49444684 stop gained CC/TA mnv 0.010 1.000 1 2003 2003