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:	C0265535
Disease:	Trigonocephaly

Trigonocephaly

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:	C1820737
Disease:	Temperature instability

Temperature instability

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:	C0038379
Disease:	Strabismus

Strabismus

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:	C0575802
Disease:	Small hand

Small hand

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:	C1836195
Disease:	Short toe

Short toe

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:	C1843108
Disease:	Short palm

Short palm

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:	C0036572
Disease:	Seizures

Seizures

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:	C1844820
Disease:	Range of joint movement increased

Range of joint movement increased

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0151526
Disease:	Premature Birth

Premature Birth

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0034013
Disease:	Precocious Puberty

Precocious Puberty

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C3809877
Disease:	Prader-Willi-like syndrome

Prader-Willi-like syndrome

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:	C1445953
Disease:	Poor eye contact

Poor eye contact

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:	C0242343
Disease:	Panhypopituitarism

Panhypopituitarism

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0920299
Disease:	Overriding toe

Overriding toe

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1446712
Disease:	Overlapping fingers

Overlapping fingers

0.700