DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1057518821 ×

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:

rs1057518821

rs1057518821

SLC2A1

1.000

1

42930671

frameshift variant

-/C

delins

CUI:	C0027066
Disease:	Myoclonus

Myoclonus

0.700

dbSNP:

rs1057518821

rs1057518821

SLC2A1

1.000

1

42930671

frameshift variant

-/C

delins

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700

dbSNP:

rs1057518821

rs1057518821

SLC2A1

1.000

1

42930671

frameshift variant

-/C

delins

CUI:	C0007758
Disease:	Cerebellar Ataxia

Cerebellar Ataxia

0.700

dbSNP:

rs1057518821

rs1057518821

SLC2A1

1.000

1

42930671

frameshift variant

-/C

delins

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs1057518821

rs1057518821

SLC2A1

1.000

1

42930671

frameshift variant

-/C

delins

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700