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: rs104894106
rs104894106
FXN
2 0.925 0.120 9 69065013 missense variant A/G;T snv 4.0E-06 0.810 1.000 7 1997 2009
dbSNP: rs104894105
rs104894105
FXN
2 0.925 0.120 9 69053193 stop gained T/C;G snv 1.2E-05 0.800 1.000 6 1997 2009
dbSNP: rs104894107
rs104894107
FXN
6 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.800 1.000 6 1997 2009
dbSNP: rs146818694
rs146818694
FXN
1 1.000 0.120 9 69064991 missense variant C/G snv 0.720 1.000 2 2004 2014
dbSNP: rs138034837
rs138034837
FXN
2 0.925 0.120 9 69072622 missense variant C/T snv 0.710 1.000 1 2020 2020
dbSNP: rs138471431
rs138471431
FXN
2 0.925 0.120 9 69065016 missense variant T/C snv 0.710 1.000 1 2007 2007
dbSNP: rs139616452
rs139616452
FXN
1 1.000 0.120 9 69072673 missense variant C/T snv 0.700 1.000 6 1997 2009
dbSNP: rs144104124
rs144104124
FXN
1 1.000 0.120 9 69072722 missense variant T/G snv 0.700 1.000 6 1997 2009
dbSNP: rs104894108
rs104894108
FXN
1 1.000 0.120 9 69035785 start lost G/A;T snv 9.1E-06 0.700 0
dbSNP: rs140987490
rs140987490
FXN
1 1.000 0.120 9 69064936 splice acceptor variant A/G snv 0.700 0
dbSNP: rs141935559
rs141935559
FXN
1 1.000 0.120 9 69035936 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs142157346
rs142157346
FXN
4 0.882 0.160 9 69053240 missense variant G/T snv 0.700 0
dbSNP: rs56214919
rs56214919
FXN
1 1.000 0.120 9 69072646 missense variant T/G snv 0.700 0
dbSNP: rs886037630
rs886037630
FXN
1 1.000 0.120 9 69053247 protein altering variant ATGTCT/TACACCTTGAGGACA delins 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs143396368
rs143396368
FXN
7 0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs148443992
rs148443992
FXN
1 1.000 0.120 9 69072686 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2014 2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 < 0.001 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2011 2011