DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs1553155986 ×

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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:

rs1553155986

rs1553155986

SLC2A1

0.827

0.280

1

42929008

missense variant

C/T

snv

CUI:	C4551966
Disease:	GLUT1 DEFICIENCY SYNDROME 1

GLUT1 DEFICIENCY SYNDROME 1

0.800

1.000

1999

2018

dbSNP:

rs1553155986

rs1553155986

SLC2A1

0.827

0.280

1

42929008

missense variant

C/T

snv

CUI:	C1842534
Disease:	DYSTONIA 18 (disorder)

DYSTONIA 18 (disorder)

0.700

1.000

2003

2011

dbSNP:

rs1553155986

rs1553155986

SLC2A1

0.827

0.280

1

42929008

missense variant

C/T

snv

CUI:	C3149117
Disease:	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE

GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE

0.700

1.000

2001

2015

dbSNP:

rs1553155986

rs1553155986

SLC2A1

0.827

0.280

1

42929008

missense variant

C/T

snv

CUI:	C4321245
Disease:	Cleft lip or lips

Cleft lip or lips

0.700

dbSNP:

rs1553155986

rs1553155986

SLC2A1

0.827

0.280

1

42929008

missense variant

C/T

snv

CUI:	C0029882
Disease:	Otitis Media

Otitis Media

0.700

dbSNP:

rs1553155986

rs1553155986

SLC2A1

0.827

0.280

1

42929008

missense variant

C/T

snv

CUI:	C2981150
Disease:	Uranostaphyloschisis

Uranostaphyloschisis

0.700