AMER1, APC membrane recruitment protein 1, 139285

N. diseases: 134; N. variants: 8
Disease: Osteopathia striata cranial sclerosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852216
rs137852216 		0.925 0.080 X 64192230 stop gained G/A snv
CUI: C0432268
Disease: Osteopathia striata cranial sclerosis
Osteopathia striata cranial sclerosis 		Musculoskeletal Diseases 0.700 1.000 3 2009 2017
dbSNP: rs137852217
rs137852217 		0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05
CUI: C0432268
Disease: Osteopathia striata cranial sclerosis
Osteopathia striata cranial sclerosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1555933578
rs1555933578 		1.000 0.040 X 64192632 frameshift variant C/- delins
CUI: C0432268
Disease: Osteopathia striata cranial sclerosis
Osteopathia striata cranial sclerosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1569192251
rs1569192251 		1.000 0.040 X 64192506 frameshift variant -/T delins
CUI: C0432268
Disease: Osteopathia striata cranial sclerosis
Osteopathia striata cranial sclerosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1569192315
rs1569192315 		1.000 0.040 X 64192616 frameshift variant G/- delins
CUI: C0432268
Disease: Osteopathia striata cranial sclerosis
Osteopathia striata cranial sclerosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs387906722
rs387906722 		1.000 0.040 X 64192858 stop gained A/T snv
CUI: C0432268
Disease: Osteopathia striata cranial sclerosis
Osteopathia striata cranial sclerosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs387907269
rs387907269 		1.000 0.040 X 64192476 stop gained G/A snv
CUI: C0432268
Disease: Osteopathia striata cranial sclerosis
Osteopathia striata cranial sclerosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs398122877
rs398122877 		1.000 0.040 X 64192020 frameshift variant G/- delins
CUI: C0432268
Disease: Osteopathia striata cranial sclerosis
Osteopathia striata cranial sclerosis 		Musculoskeletal Diseases 0.700 0