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:	C0746102
Disease:	Chronic lung disease

Chronic lung disease

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1970591
Disease:	Abnormal pupillary light reflex

Abnormal pupillary light reflex

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C3278923
Disease:	Dilated ventricles (finding)

Dilated ventricles (finding)

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0151611
Disease:	Electroencephalogram abnormal

Electroencephalogram abnormal

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1848673
Disease:	Hypoplastic feet

Hypoplastic feet

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1856409
Disease:	Dilation of lateral ventricles

Dilation of lateral ventricles

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1837142
Disease:	Poor suck

Poor suck

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0426886
Disease:	Tapering fingers (finding)

Tapering fingers (finding)

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0016842
Disease:	Congenital pectus excavatum

Congenital pectus excavatum

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1855669
Disease:	Absent frontal sinuses

Absent frontal sinuses

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C4281993
Disease:	Neonatal respiratory distress

Neonatal respiratory distress

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C4073265
Disease:	Abnormality of inferior oblique extraocular muscle

Abnormality of inferior oblique extraocular muscle

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0520679
Disease:	Sleep Apnea, Obstructive

Sleep Apnea, Obstructive

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0239815
Disease:	Hand clenching

Hand clenching

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0020224
Disease:	Polyhydramnios

Polyhydramnios

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C4021790
Disease:	Abnormality of the skeletal system

Abnormality of the skeletal system

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C2673410
Disease:	Small midface

Small midface

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1855670
Disease:	Abnormal cornea morphology

Abnormal cornea morphology

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C3554724
Disease:	Complete duplication of thumb phalanx

Complete duplication of thumb phalanx

0.700