DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Osteogenesis imperfecta type IV (disorder) ×

Gene: COL1A1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs66721653

rs66721653

COL1A1

1.000

17

50195665

missense variant

C/A;T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.800

1.000

1989

2015

dbSNP:

rs72648322

rs72648322

COL1A1

1.000

17

50195330

missense variant

C/A;T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.800

1.000

1989

2015

dbSNP:

rs72653169

rs72653169

COL1A1

1.000

17

50188920

missense variant

C/T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.800

1.000

1989

2007

dbSNP:

rs67507747

rs67507747

COL1A1

0.827

0.160

17

50194032

missense variant

C/A;G;T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700

1.000

1989

2007

dbSNP:

rs72645321

rs72645321

COL1A1

0.925

0.120

17

50197045

missense variant

C/T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700

1.000

1989

2007

dbSNP:

rs72645365

rs72645365

COL1A1

0.925

0.120

17

50195656

missense variant

C/A

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700

1.000

1989

2007

dbSNP:

rs72648353

rs72648353

COL1A1

1.000

17

50194384

missense variant

C/A

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700

1.000

1989

2007

dbSNP:

rs72651636

rs72651636

COL1A1

1.000

17

50191868

missense variant

C/T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700

1.000

1989

2007

dbSNP:

rs66501246

rs66501246

COL1A1

0.925

0.120

17

50195441

missense variant

C/G;T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700

dbSNP:

rs66527965

rs66527965

COL1A1

0.763

0.240

17

50193038

missense variant

C/A;T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700

dbSNP:

rs67182491

rs67182491

COL1A1

1.000

17

50195575

missense variant

C/A;T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700

dbSNP:

rs67682641

rs67682641

COL1A1

0.807

0.240

17

50194375

missense variant

C/A;T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700

dbSNP:

rs68114505

rs68114505

COL1A1

1.000

17

50191814

missense variant

C/A;T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700

dbSNP:

rs72654795

rs72654795

COL1A1

0.925

0.120

17

50188565

missense variant

C/T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700

dbSNP:

rs72654796

rs72654796

COL1A1

1.000

17

50188556

missense variant

C/T

snv

CUI:	C0268363
Disease:	Osteogenesis imperfecta type IV (disorder)

Osteogenesis imperfecta type IV (disorder)

0.700