DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1555743003 ×

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:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0856863
Disease:	Broad-based gait

Broad-based gait

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C1837142
Disease:	Poor suck

Poor suck

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0267048
Disease:	Glossoptosis

Glossoptosis

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0034012
Disease:	Delayed Puberty

Delayed Puberty

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C4022447
Disease:	Abnormality of the tympanic membrane

Abnormality of the tympanic membrane

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C4025190
Disease:	Abnormal epiglottis morphology

Abnormal epiglottis morphology

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0004096
Disease:	Asthma

Asthma

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0018777
Disease:	Conductive hearing loss

Conductive hearing loss

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0264303
Disease:	Laryngomalacia

Laryngomalacia

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0003467
Disease:	Anxiety

Anxiety

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0423109
Disease:	Upward slant of palpebral fissure

Upward slant of palpebral fissure

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0241521
Disease:	Ulnar deviation of hand

Ulnar deviation of hand

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0023221
Disease:	Leg Length Inequality

Leg Length Inequality

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C1854882
Disease:	Absent speech

Absent speech

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0152441
Disease:	Madelung Deformity

Madelung Deformity

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C4023424
Disease:	Prominent digit pad

Prominent digit pad

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0042024
Disease:	Urinary Incontinence

Urinary Incontinence

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0037317
Disease:	Sleep disturbances

Sleep disturbances

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C1843156
Disease:	Progressive sensorineural hearing impairment

Progressive sensorineural hearing impairment

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0240538
Disease:	Convex nasal ridge

Convex nasal ridge

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0456070
Disease:	Growth delay

Growth delay

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C4073241
Disease:	Abnormality of nasopharyngeal adenoids

Abnormality of nasopharyngeal adenoids

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C1398312
Disease:	Narrow palate

Narrow palate

0.700

1.000

2016

dbSNP:

rs1555743003

ASXL3

0.701

0.520

33740444

splice donor variant

G/A

snv

CUI:	C0333068
Disease:	Flexion contracture

Flexion contracture

0.700

1.000

2016