DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1569548274 ×

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:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-

delins

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1844946
Disease:	Episodic hypoventilation

Episodic hypoventilation

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0575059
Disease:	Spastic tetraparesis

Spastic tetraparesis

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0042963
Disease:	Vomiting

Vomiting

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1145670
Disease:	Respiratory Failure

Respiratory Failure

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C4023523
Disease:	Bilateral fetal pyelectasis

Bilateral fetal pyelectasis

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1837142
Disease:	Poor suck

Poor suck

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1866180
Disease:	Horizontal pendular nystagmus

Horizontal pendular nystagmus

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1963101
Disease:	Encephalopathy, CTCAE 3.0

Encephalopathy, CTCAE 3.0

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0011168
Disease:	Deglutition Disorders

Deglutition Disorders

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0013404
Disease:	Dyspnea

Dyspnea

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0423109
Disease:	Upward slant of palpebral fissure

Upward slant of palpebral fissure

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0240543
Disease:	Bulbous nose

Bulbous nose

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0029453
Disease:	Osteopenia

Osteopenia

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0004106
Disease:	Astigmatism

Astigmatism

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C3810018
Disease:	Bilateral coxa valga

Bilateral coxa valga

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1845847
Disease:	Coarse facial features

Coarse facial features

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.700

dbSNP:

rs1569548274

MECP2

0.701

0.520

154030553

splice acceptor variant

delins

CUI:	C1142132
Disease:	Carnitine deficiency

Carnitine deficiency

0.700