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: rs199476322
rs199476322
TPM1
2 0.925 0.040 15 63064141 missense variant A/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs397516486
rs397516486
TPM1
1 1.000 0.040 15 63061758 missense variant C/G snv 0.700 1.000 1 2004 2004
dbSNP: rs727503518
rs727503518
TPM1
1 1.000 0.040 15 63062230 missense variant G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs730881131
rs730881131
TPM1
2 1.000 0.040 15 63057036 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs748196768
rs748196768
TPM1
1 1.000 0.040 15 63071117 missense variant A/G snv 2.8E-05 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs758264780
rs758264780
TPM1
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.010 1.000 1 2005 2005
dbSNP: rs1555409659
rs1555409659
TPM1
1 1.000 0.040 15 63062214 splice acceptor variant TACTCG/- delins 0.700 0
dbSNP: rs397516372
rs397516372
TPM1
1 1.000 0.040 15 63059645 missense variant C/G;T snv 0.700 0
dbSNP: rs727504264
rs727504264
TPM1
1 1.000 0.040 15 63060935 missense variant G/C snv 0.700 0
dbSNP: rs727504290
rs727504290
TPM1
1 1.000 0.040 15 63042875 missense variant G/C snv 0.700 0
dbSNP: rs397516456
rs397516456
TNNT2
5 0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05 0.710 1.000 22 1996 2016
dbSNP: rs121964856
rs121964856
TNNT2
8 0.807 0.120 1 201365297 missense variant C/A;T snv 0.730 1.000 18 1994 2020
dbSNP: rs397516457
rs397516457
TNNT2
4 0.851 0.080 1 201365291 missense variant C/A;T snv 0.710 1.000 12 1999 2017
dbSNP: rs397516463
rs397516463
TNNT2
4 0.851 0.080 1 201364369 missense variant G/A snv 1.4E-05 0.700 1.000 12 1996 2017
dbSNP: rs74315379
rs74315379
TNNT2
6 0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 0.700 1.000 12 2001 2013
dbSNP: rs111377893
rs111377893
TNNT2
2 0.925 0.080 1 201359622 splice donor variant C/A;G;T snv 0.700 1.000 9 1994 2011
dbSNP: rs121964855
rs121964855
TNNT2
4 0.851 0.080 1 201365638 missense variant A/T snv 4.0E-06 0.700 1.000 8 1994 2008
dbSNP: rs397516470
rs397516470
TNNT2
4 0.851 0.080 1 201363377 inframe deletion CTC/- delins 0.700 1.000 8 1995 2012
dbSNP: rs727504247
rs727504247
TNNT2
5 0.827 0.080 1 201359217 stop gained C/A;T snv 4.1E-06 7.0E-06 0.700 1.000 4 2003 2013
dbSNP: rs730881116
rs730881116
TNNT2
4 0.851 0.080 1 201359216 stop gained C/T snv 0.700 1.000 4 2003 2013
dbSNP: rs397516459
rs397516459
TNNT2
1 1.000 0.040 1 201365281 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2004 2011
dbSNP: rs727504246
rs727504246
TNNT2
5 0.827 0.080 1 201363330 missense variant G/A snv 0.710 1.000 3 2000 2004
dbSNP: rs727504255
rs727504255
TNNT2
1 1.000 0.040 1 201365630 missense variant C/T snv 0.700 1.000 2 2008 2009
dbSNP: rs727504331
rs727504331
TNNT2
2 0.925 0.080 1 201365242 missense variant A/C snv 8.0E-06 0.700 1.000 2 2003 2008
dbSNP: rs121964857
rs121964857
TNNT2
4 0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 0.710 1.000 1 2003 2003