DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs2234663 ×

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:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC

delins

CUI:	C0151779
Disease:	Cutaneous Melanoma

Cutaneous Melanoma

0.010

1.000

2019

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0025202
Disease:	melanoma

melanoma

0.010

1.000

2019

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0031099
Disease:	Periodontitis

Periodontitis

0.010

1.000

2012

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0024117
Disease:	Chronic Obstructive Airway Disease

Chronic Obstructive Airway Disease

0.010

1.000

2014

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.010

< 0.001

2016

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0042900
Disease:	Vitiligo

Vitiligo

0.010

1.000

2018

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0023283
Disease:	Leishmaniasis, Cutaneous

Leishmaniasis, Cutaneous

0.010

1.000

2019

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0041228
Disease:	African Trypanosomiasis

African Trypanosomiasis

0.010

1.000

2019

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0003873
Disease:	Rheumatoid Arthritis

Rheumatoid Arthritis

0.010

1.000

2017

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0742343
Disease:	Acute Chest Syndrome

Acute Chest Syndrome

0.010

1.000

2010

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0029443
Disease:	Osteomyelitis

Osteomyelitis

0.010

1.000

2017

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C1847835
Disease:	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)

VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)

0.010

1.000

2018

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0035439
Disease:	Rheumatic Heart Disease

Rheumatic Heart Disease

0.010

1.000

2016

dbSNP:

rs2234663

IL1RN

0.716

0.480

113130529

intron variant

delins

CUI:	C0018213
Disease:	Graves Disease

Graves Disease

0.010

1.000

2018