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: rs121434475
rs121434475
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
1 1.000 0.080 MT 9997 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs199476321
rs199476321
TPM1
3 0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05 0.700 1.000 8 2003 2017
dbSNP: rs199476317
rs199476317
TPM1
6 0.827 0.080 15 63062263 missense variant G/A snv 0.700 1.000 7 2010 2017
dbSNP: rs199476316
rs199476316
TPM1
3 0.925 0.080 15 63062219 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 6 2008 2016
dbSNP: rs199476315
rs199476315
TPM1
5 0.827 0.080 15 63061723 missense variant G/A snv 0.700 1.000 9 2003 2016
dbSNP: rs104894502
rs104894502
TPM1
6 0.807 0.120 15 63060915 missense variant A/G;T snv 0.030 1.000 3 1994 2012
dbSNP: rs104894503
rs104894503
TPM1
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.740 1.000 14 1994 2015
dbSNP: rs397516373
rs397516373
TPM1
4 0.925 0.080 15 63059663 missense variant G/A snv 0.700 1.000 3 2011 2017
dbSNP: rs1555408679
rs1555408679
TPM1
1 1.000 0.080 15 63059648 missense variant A/G snv 0.700 0
dbSNP: rs1415568768
rs1415568768
FTH1 ; BEST1
1 1.000 0.080 11 61965454 missense variant T/C snv 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs727503506
rs727503506
TNNI3
1 1.000 0.080 19 55154743 missense variant C/G snv 8.0E-06 0.700 1.000 4 2011 2017
dbSNP: rs1568858210
rs1568858210
TNNI3
1 1.000 0.080 19 55154175 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs730881069
rs730881069
TNNI3
2 1.000 0.080 19 55154172 missense variant C/T snv 4.0E-06 0.700 1.000 2 2011 2012
dbSNP: rs397516347
rs397516347
TNNI3
5 0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05 0.700 1.000 11 2003 2017
dbSNP: rs104894724
rs104894724
TNNI3
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.730 1.000 17 1997 2017
dbSNP: rs397516349
rs397516349
TNNI3
6 0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05 0.700 1.000 8 1997 2014
dbSNP: rs397516353
rs397516353
TNNI3
3 0.882 0.080 19 55154109 missense variant G/A snv 0.700 1.000 12 2003 2017
dbSNP: rs368861241
rs368861241
TNNI3
4 0.851 0.120 19 55154095 missense variant G/A snv 4.0E-05 7.0E-06 0.720 1.000 15 1997 2017
dbSNP: rs397516354
rs397516354
TNNI3
8 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 17 1997 2017
dbSNP: rs727504242
rs727504242
TNNI3
2 0.925 0.080 19 55154082 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 4 2004 2017
dbSNP: rs727503504
rs727503504
TNNI3
6 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 1.000 4 2009 2015
dbSNP: rs727503503
rs727503503
TNNI3
5 0.827 0.120 19 55154070 missense variant C/T snv 0.700 1.000 3 2009 2017
dbSNP: rs727503501
rs727503501
TNNI3
1 1.000 0.080 19 55154053 missense variant C/T snv 0.700 0
dbSNP: rs397516351
rs397516351
TNNI3
2 0.925 0.080 19 55154045 inframe deletion TTC/- delins 0.700 1.000 4 2003 2017