Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1409944554
rs1409944554
A2ML1
1.000 12 8822661 stop gained C/T snv 4.0E-06
CUI: C1833692
Disease: OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
OTITIS MEDIA, SUSCEPTIBILITY TO (finding) 		0.700 1.000 1 2019 2019
dbSNP: rs202067416
rs202067416
A2ML1
1.000 12 8868358 splice donor variant G/A;C snv 9.9E-04 1.1E-03
CUI: C1833692
Disease: OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
OTITIS MEDIA, SUSCEPTIBILITY TO (finding) 		0.700 1.000 1 2019 2019
dbSNP: rs863224951
rs863224951
A2ML1
1.000 12 8852222 frameshift variant -/GGCTAAAT delins
CUI: C1833692
Disease: OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
OTITIS MEDIA, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs769398333
rs769398333
A2ML1
1.000 0.080 12 8857954 missense variant C/A;T snv 1.6E-05
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2015 2015