Gene: MYL2 ×
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: rs1566147422
rs1566147422
MYL2
1 12 110911146 frameshift variant AG/- del 0.700 0
dbSNP: rs751392310
rs751392310
MYL2
1 12 110919103 inframe deletion CCT/- delins 7.0E-06 0.700 0
dbSNP: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs35049558
rs35049558
MYL2
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 1.000 1 2019 2019