DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variant: rs200476039 ×

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:

rs200476039

EML6

54760823

intron variant

TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT

delins

5.5E-02

CUI:	C0200633
Disease:	Neutrophil count (procedure)

Neutrophil count (procedure)

0.700

1.000

2016

dbSNP:

rs200476039

EML6

54760823

intron variant

delins

5.5E-02

CUI:	C0857490
Disease:	Granulocyte count

Granulocyte count

0.700

1.000

2016

dbSNP:

rs200476039

EML6

54760823

intron variant

delins

5.5E-02

CUI:	C0200638
Disease:	Eosinophil count procedure

Eosinophil count procedure

0.700

1.000

2016