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: rs142546324
rs142546324
MYH11 ; NDE1
1 1.000 0.080 16 15718337 missense variant C/T snv 1.7E-04 2.0E-04 0.700 1.000 6 2006 2017
dbSNP: rs397514037
rs397514037
MYH11 ; NDE1
1 1.000 0.080 16 15721421 splice donor variant C/A;G;T snv 0.700 1.000 3 2006 2016
dbSNP: rs267606902
rs267606902
MYH11
2 0.925 0.080 16 15748092 missense variant C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs1555554098
rs1555554098
MYH11
1 1.000 0.080 16 15726913 inframe deletion TGCACCTGCGCCTCCAGCTTCTTCTTCTTATGTTCCACCTCCTGCTTGGCCTGGCCCAGGACCCGCAGCTCC/- delins 0.700 0
dbSNP: rs1567692384
rs1567692384
MYH11 ; NDE1
1 1.000 0.080 16 15719639 frameshift variant TT/- delins 0.700 0
dbSNP: rs749497185
rs749497185
MYH11
1 1.000 0.080 16 15741512 frameshift variant CT/- del 4.0E-06 0.700 0
dbSNP: rs797045725
rs797045725
MYH11
1 1.000 0.080 16 15735402 frameshift variant TCCAGCTCTGTCTTTAGGGCCTCCAGCTCCTCGCCGAGGTCTCGCTTCT/- delins 0.700 0