DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs886041125 ×

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:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C0220687
Disease:	KBG syndrome

KBG syndrome

0.700

1.000

2016

2016

dbSNP:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C0431664
Disease:	Unilateral Cryptorchidism

Unilateral Cryptorchidism

0.700

dbSNP:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C1843108
Disease:	Short palm

Short palm

0.700

dbSNP:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.700

dbSNP:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C1843367
Disease:	Poor school performance

Poor school performance

0.700

dbSNP:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.700

dbSNP:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.700

dbSNP:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C0018777
Disease:	Conductive hearing loss

Conductive hearing loss

0.700

dbSNP:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C1850049
Disease:	Clinodactyly of the 5th finger

Clinodactyly of the 5th finger

0.700

dbSNP:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C1848673
Disease:	Hypoplastic feet

Hypoplastic feet

0.700

dbSNP:

rs886041125

rs886041125

ANKRD11

0.807

0.440

16

89284635

frameshift variant

GTTTT/-

delins

7.0E-06

CUI:	C0036572
Disease:	Seizures

Seizures

0.700