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: rs121917776
rs121917776
VCL
5 0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1157637439
rs1157637439
VARS2
4 0.882 0.120 6 30920187 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs759589565
rs759589565
TXNRD1
2 0.925 0.040 12 104321227 missense variant A/G snv 4.0E-05 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs778924100
rs778924100
TXNRD1
2 0.925 0.040 12 104318981 stop gained C/G;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2005 2015
dbSNP: rs780379544
rs780379544
TTN ; TTN-AS1 ; LOC101927055
1 1.000 0.040 2 178776604 missense variant T/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs267607158
rs267607158
TTN ; TTN-AS1
4 0.851 0.040 2 178740125 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs139517732
rs139517732
TTN
4 0.851 0.040 2 178802273 missense variant C/T snv 4.4E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs28933405
rs28933405
TTN
3 0.882 0.080 2 178785999 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs148395034
rs148395034
TRIM63
2 0.925 0.040 1 26058482 stop gained G/A;C snv 7.0E-04; 5.6E-05 0.720 0.500 2 2012 2014
dbSNP: rs140523053
rs140523053
TRIM63
1 1.000 0.040 1 26067352 missense variant G/A snv 1.4E-03 1.3E-03 0.010 1.000 1 2012 2012
dbSNP: rs377334933
rs377334933
TRIM63
1 1.000 0.040 1 26061277 missense variant G/C snv 4.8E-05 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs104894503
rs104894503
TPM1
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.800 1.000 28 1994 2019
dbSNP: rs199476315
rs199476315
TPM1
5 0.827 0.080 15 63061723 missense variant G/A snv 0.700 1.000 10 2003 2016
dbSNP: rs104894502
rs104894502
TPM1
6 0.807 0.120 15 63060915 missense variant A/G;T snv 0.040 1.000 4 2000 2014
dbSNP: rs104894504
rs104894504
TPM1
2 0.925 0.080 15 63057028 missense variant T/C snv 0.710 1.000 4 2001 2011
dbSNP: rs199476314
rs199476314
TPM1
4 0.882 0.040 15 63060930 missense variant T/G snv 0.030 1.000 3 2002 2005
dbSNP: rs397516376
rs397516376
TPM1
1 1.000 0.040 15 63060924 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 3 2015 2017
dbSNP: rs199476321
rs199476321
TPM1
3 0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05 0.020 1.000 2 2019 2019
dbSNP: rs104894501
rs104894501
TPM1
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs199476301
rs199476301
TPM1
6 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs199476305
rs199476305
TPM1
2 1.000 0.040 15 63044096 missense variant G/C snv 0.710 1.000 1 2005 2005
dbSNP: rs199476306
rs199476306
TPM1
3 0.882 0.080 15 63044100 missense variant C/T snv 0.710 1.000 1 1996 1996
dbSNP: rs199476307
rs199476307
TPM1
1 1.000 0.040 15 63044121 missense variant A/C snv 0.010 1.000 1 1996 1996
dbSNP: rs199476320
rs199476320
TPM1
3 0.925 0.040 15 63064121 missense variant C/G;T snv 0.010 1.000 1 2019 2019