DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1557135315 ×

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:

rs1557135315

MECP2

0.851

0.080

154030627

splice acceptor variant

GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/-

delins

CUI:	C1846058
Disease:	Lubs X-linked mental retardation syndrome

Lubs X-linked mental retardation syndrome

0.700

dbSNP:

rs1557135315

MECP2

0.851

0.080

154030627

splice acceptor variant

GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/-

delins

CUI:	C1968550
Disease:	Mental Retardation, X-Linked, Syndromic 13

Mental Retardation, X-Linked, Syndromic 13

0.700

dbSNP:

rs1557135315

MECP2

0.851

0.080

154030627

splice acceptor variant

GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/-

delins

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.700

dbSNP:

rs1557135315

MECP2

0.851

0.080

154030627

splice acceptor variant

GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/-

delins

CUI:	C1968556
Disease:	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700