DisGeNET - a database of gene-disease associations

Source: ALL

Disease: MARFAN LIPODYSTROPHY SYNDROME ×

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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:

rs727503057

rs727503057

FBN1

0.708

0.280

15

48505106

missense variant

G/A

snv

7.0E-06

CUI:	C4310796
Disease:	MARFAN LIPODYSTROPHY SYNDROME

MARFAN LIPODYSTROPHY SYNDROME

0.700

dbSNP:

rs193922204

rs193922204

FBN1

0.763

0.200

15

48468542

splice region variant

C/T

snv

4.0E-06

7.0E-06

CUI:	C4310796
Disease:	MARFAN LIPODYSTROPHY SYNDROME

MARFAN LIPODYSTROPHY SYNDROME

0.700