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: rs777647845
rs777647845
AEBP1
1 1.000 7 44111533 stop gained C/A snv 2.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs1443187318
rs1443187318
AEBP1
14 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
dbSNP: rs1554327284
rs1554327284
AEBP1 ; MIR4649
1 1.000 7 44110262 frameshift variant GACCCAG/- delins 0.700 0
dbSNP: rs1554327449
rs1554327449
AEBP1 ; MIR4649
1 1.000 7 44110794 frameshift variant C/- del 0.700 0
dbSNP: rs369016031
rs369016031
AEBP1 ; MIR4649
1 1.000 7 44111058 splice donor variant G/A snv 3.7E-05 1.4E-05 0.700 0