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: rs1135401814
rs1135401814
MICU1
1 1.000 10 72423263 stop gained G/A snv 0.700 0
dbSNP: rs369915689
rs369915689
MICU1
1 1.000 10 72477173 splice donor variant C/T snv 5.5E-05 2.1E-05 0.700 0
dbSNP: rs749124658
rs749124658
MICU1
1 1.000 10 72566754 frameshift variant C/- delins 1.6E-05 4.9E-05 0.700 0
dbSNP: rs754639936
rs754639936
MICU1
1 1.000 10 72408038 splice acceptor variant C/G;T snv 5.2E-05 0.700 0
dbSNP: rs777327250
rs777327250
MICU1
1 1.000 10 72508260 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0