Source: CLINVAR ×
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: rs104894724
rs104894724
TNNI3
4 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.810 1.000 0 2003 2016
dbSNP: rs104894729
rs104894729
TNNI3
4 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.810 1.000 0 2003 2010
dbSNP: rs104894730
rs104894730
TNNI3
1 1.000 0.040 19 55154047 missense variant T/C snv 0.810 1.000 0 2003 2005
dbSNP: rs121917760
rs121917760
TNNI3
2 0.925 0.040 19 55154148 missense variant A/G;T snv 0.810 1.000 0 2003 2016
dbSNP: rs1114167341
rs1114167341
CRYAB
2 0.882 0.040 11 111908966 missense variant T/C snv 0.710 1.000 0 2017 2017
dbSNP: rs397516354
rs397516354
TNNI3
7 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 5 2003 2012
dbSNP: rs104894728
rs104894728
TNNI3
2 0.925 0.040 19 55151898 missense variant T/C snv 0.700 0
dbSNP: rs1114167340
rs1114167340
TNNI3
1 1.000 0.040 19 55154200 missense variant C/A snv 0.700 0
dbSNP: rs397516349
rs397516349
TNNI3
6 0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs727503504
rs727503504
TNNI3
6 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 0