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: rs104894311
rs104894311
TNNI2 ; LOC107984299
1 1.000 0.080 11 1841523 missense variant G/A snv 0.800 1.000 1 2003 2003
dbSNP: rs104894312
rs104894312
TNNI2 ; LOC107984299
5 0.851 0.080 11 1841468 stop gained C/T snv 0.700 0
dbSNP: rs121913623
rs121913623
MYH3
3 0.882 0.080 17 10648592 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1555525264
rs1555525264
MYH3
1 1.000 0.080 17 10632606 missense variant C/T snv 0.700 0
dbSNP: rs199474800
rs199474800
TNNI2 ; LOC107984299
1 1.000 0.080 11 1841498 inframe deletion GAG/- delins 0.700 0
dbSNP: rs797046046
rs797046046
TNNI2 ; LOC107984299
1 1.000 0.080 11 1841527 missense variant G/T snv 0.700 0