DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1555528356 ×

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:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C0220687
Disease:	KBG syndrome

KBG syndrome

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C1835807
Disease:	Prominent fingertip pads

Prominent fingertip pads

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C1849089
Disease:	Broad forehead

Broad forehead

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C0152227
Disease:	Excessive tearing

Excessive tearing

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C1865017
Disease:	Thin upper lip vermilion

Thin upper lip vermilion

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C0578038
Disease:	Thin lips

Thin lips

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C0024433
Disease:	Macrostomia

Macrostomia

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C1865014
Disease:	Long philtrum

Long philtrum

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C1389018
Disease:	Atrioventricular Septal Defect

Atrioventricular Septal Defect

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C0221357
Disease:	Brachydactyly

Brachydactyly

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C4023133
Disease:	Shortening of all phalanges of fingers

Shortening of all phalanges of fingers

0.700

dbSNP:

rs1555528356

rs1555528356

ANKRD11

0.790

0.360

16

89282836

stop gained

G/A

snv

CUI:	C1856121
Disease:	Broad eyebrow

Broad eyebrow

0.700