DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs770374710 ×

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:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1993

2015

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1836806
Disease:	Mild microcephaly

Mild microcephaly

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0042798
Disease:	Low Vision

Low Vision

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1445953
Disease:	Poor eye contact

Poor eye contact

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0036439
Disease:	Scoliosis, unspecified

Scoliosis, unspecified

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C3494422
Disease:	Retrognathia

Retrognathia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0265535
Disease:	Trigonocephaly

Trigonocephaly

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0265213
Disease:	Distal arthrogryposis syndrome

Distal arthrogryposis syndrome

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0158113
Disease:	Contracture of joint of hand

Contracture of joint of hand

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0027092
Disease:	Myopia

Myopia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C4021845
Disease:	Oromotor apraxia

Oromotor apraxia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0428977
Disease:	Bradycardia

Bradycardia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0549423
Disease:	Obstructive Hydrocephalus

Obstructive Hydrocephalus

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1837397
Disease:	Severe global developmental delay

Severe global developmental delay

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C2712334
Disease:	Actual Aspiration

Actual Aspiration

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C4025537
Disease:	Humerus varus

Humerus varus

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0014877
Disease:	Esotropia

Esotropia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0232466
Disease:	Feeding difficulties

Feeding difficulties

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0029453
Disease:	Osteopenia

Osteopenia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1386048
Disease:	Intrauterine retardation

Intrauterine retardation

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0349588
Disease:	Short stature

Short stature

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0010278
Disease:	Craniosynostosis

Craniosynostosis

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1829460
Disease:	Tongue thrusting

Tongue thrusting

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0034013
Disease:	Precocious Puberty

Precocious Puberty

0.700