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: rs587780273
rs587780273
ACTB
1 1.000 0.240 7 5529594 missense variant C/T snv 0.700 0
dbSNP: rs765265404
rs765265404
ACTB
2 1.000 0.240 7 5529173 missense variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs769364943
rs769364943
ASPM
1 1.000 0.240 1 197101927 stop gained G/A;C snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs786205585
rs786205585
ACTB
1 1.000 0.240 7 5529307 missense variant G/A;C snv 0.700 0
dbSNP: rs886041270
rs886041270
ACTB
1 1.000 0.240 7 5529576 missense variant G/C snv 0.700 0