DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1380822792 ×

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:

rs1380822792

rs1380822792

NAA15

0.882

0.080

4

139336933

frameshift variant

CTTGA/-

delins

CUI:	C0232466
Disease:	Feeding difficulties

Feeding difficulties

0.700

dbSNP:

rs1380822792

rs1380822792

NAA15

0.882

0.080

4

139336933

frameshift variant

CTTGA/-

delins

CUI:	C1696701
Disease:	Skin-picking

Skin-picking

0.700

dbSNP:

rs1380822792

rs1380822792

NAA15

0.882

0.080

4

139336933

frameshift variant

CTTGA/-

delins

CUI:	C0037317
Disease:	Sleep disturbances

Sleep disturbances

0.700

dbSNP:

rs1380822792

rs1380822792

NAA15

0.882

0.080

4

139336933

frameshift variant

CTTGA/-

delins

CUI:	C1836830
Disease:	Developmental regression

Developmental regression

0.700

dbSNP:

rs1380822792

rs1380822792

NAA15

0.882

0.080

4

139336933

frameshift variant

CTTGA/-

delins

CUI:	C0424375
Disease:	Biting self

Biting self

0.700

dbSNP:

rs1380822792

rs1380822792

NAA15

0.882

0.080

4

139336933

frameshift variant

CTTGA/-

delins

CUI:	C4540470
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50

MENTAL RETARDATION, AUTOSOMAL DOMINANT 50

0.700

dbSNP:

rs1380822792

rs1380822792

NAA15

0.882

0.080

4

139336933

frameshift variant

CTTGA/-

delins

CUI:	C0038273
Disease:	Stereotypic Movement Disorder

Stereotypic Movement Disorder

0.700