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: rs80358249
rs80358249
TNNT1
2 0.925 0.080 19 55137176 stop gained C/A snv 4.0E-06 1.6E-04 0.710 1.000 5 2000 2018
dbSNP: rs1156410888
rs1156410888
TNNT1
1 1.000 0.080 19 55137214 splice acceptor variant T/C snv 7.0E-06 0.700 1.000 3 2000 2015
dbSNP: rs1555859304
rs1555859304
TNNT1
1 1.000 0.080 19 55145551 frameshift variant -/G delins 0.700 0
dbSNP: rs1555859876
rs1555859876
TNNT1
1 1.000 0.080 19 55147121 splice region variant C/T snv 0.700 0