DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs761857514 ×

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:

rs761857514

rs761857514

FBN1

0.851

0.240

15

48452676

stop gained

C/A;T

snv

4.0E-06

CUI:	C0040433
Disease:	Tooth Crowding

Tooth Crowding

0.700

dbSNP:

rs761857514

rs761857514

FBN1

0.851

0.240

15

48452676

stop gained

C/A;T

snv

4.0E-06

CUI:	C0036439
Disease:	Scoliosis, unspecified

Scoliosis, unspecified

0.700

dbSNP:

rs761857514

rs761857514

FBN1

0.851

0.240

15

48452676

stop gained

C/A;T

snv

4.0E-06

CUI:	C1136179
Disease:	Hammer Toe

Hammer Toe

0.700

dbSNP:

rs761857514

rs761857514

FBN1

0.851

0.240

15

48452676

stop gained

C/A;T

snv

4.0E-06

CUI:	C4707243
Disease:	Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection

0.700

dbSNP:

rs761857514

rs761857514

FBN1

0.851

0.240

15

48452676

stop gained

C/A;T

snv

4.0E-06

CUI:	C1836996
Disease:	Disproportionate tall stature

Disproportionate tall stature

0.700

dbSNP:

rs761857514

rs761857514

FBN1

0.851

0.240

15

48452676

stop gained

C/A;T

snv

4.0E-06

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.700

dbSNP:

rs761857514

rs761857514

FBN1

0.851

0.240

15

48452676

stop gained

C/A;T

snv

4.0E-06

CUI:	C0240635
Disease:	Byzanthine arch palate

Byzanthine arch palate

0.700

dbSNP:

rs761857514

rs761857514

FBN1

0.851

0.240

15

48452676

stop gained

C/A;T

snv

4.0E-06

CUI:	C1844820
Disease:	Range of joint movement increased

Range of joint movement increased

0.700