DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs1232880706 ×

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:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0423224
Disease:	Sunken eyes

Sunken eyes

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0221358
Disease:	Long narrow head

Long narrow head

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C4281993
Disease:	Neonatal respiratory distress

Neonatal respiratory distress

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0268435
Disease:	Renal Tubular Acidosis, Type II

Renal Tubular Acidosis, Type II

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0152459
Disease:	Linear atrophy

Linear atrophy

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C2316787
Disease:	Chronic kidney disease stage 3

Chronic kidney disease stage 3

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C1854113
Disease:	Prominent nasal bridge

Prominent nasal bridge

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C1858085
Disease:	Malar flattening

Malar flattening

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0027709
Disease:	Nephrocalcinosis

Nephrocalcinosis

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C3553764
Disease:	Joint hyperflexibility

Joint hyperflexibility

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0546297
Disease:	Hallux Varus

Hallux Varus

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0423110
Disease:	Downward slant of palpebral fissure

Downward slant of palpebral fissure

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0085682
Disease:	Hypophosphatemia

Hypophosphatemia

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0032461
Disease:	Polycythemia

Polycythemia

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0004045
Disease:	Asphyxia Neonatorum

Asphyxia Neonatorum

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C1298820
Disease:	Aneurysm of aortic root

Aneurysm of aortic root

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0085207
Disease:	Gestational Diabetes

Gestational Diabetes

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0003706
Disease:	Arachnodactyly

Arachnodactyly

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0016842
Disease:	Congenital pectus excavatum

Congenital pectus excavatum

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0040433
Disease:	Tooth Crowding

Tooth Crowding

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C0149781
Disease:	Spontaneous pneumothorax

Spontaneous pneumothorax

0.700

dbSNP:

rs1232880706

FBN1

0.689

0.440

48526247

stop gained

C/A;T

snv

CUI:	C1704375
Disease:	Hypophosphatemic Rickets

Hypophosphatemic Rickets

0.700