DisGeNET - a database of gene-disease associations

Source: GWASDB

Disease: Low density lipoprotein cholesterol measurement ×

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:

rs405509

APOE

0.667

0.480

44905579

upstream gene variant

T/G

snv

0.58

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

2013

dbSNP:

rs602633

0.851

0.080

109278889

downstream gene variant

T/G

snv

0.63

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2008

2012

dbSNP:

rs12721046

APOC1

44917997

intron variant

G/A

snv

0.11

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs17242787

LDLR

11091784

intron variant

T/A

snv

6.4E-03

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs17248720

LDLR

11087511

upstream gene variant

C/T

snv

0.16

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs283813

NECTIN2

1.000

0.080

44885917

intron variant

T/A

snv

0.11

0.16

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs389261

APOC1

44917086

intron variant

G/A

snv

7.9E-02

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs4970834

CELSR2

0.925

0.160

109272258

intron variant

C/T

snv

0.17

0.21

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2008

2012

dbSNP:

rs499883

PCSK9

55053501

intron variant

G/A;C

snv

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs5030359

ICAM1

10277786

intron variant

G/A

snv

2.1E-03

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs6982636

125467073

intron variant

G/A

snv

0.43

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs769450

APOE

0.925

0.120

44907187

non coding transcript exon variant

G/A

snv

0.39

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs934197

APOB

21044589

upstream gene variant

G/A

snv

0.25

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs1006725

TCF7L2

112970444

intron variant

A/G

snv

4.2E-03

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs10087178

MSRA

10111284

intron variant

T/C

snv

6.6E-02

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs10107815

MSRA

10156645

intron variant

G/C

snv

5.1E-02

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs10156121

142672656

downstream gene variant

T/C

snv

3.9E-02

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs10212320

TGFBR2

30632373

non coding transcript exon variant

C/T

snv

7.2E-03

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs102275

TMEM258

0.827

0.320

61790331

non coding transcript exon variant

T/C

snv

0.47

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs10271556

NAMPT

106258428

intron variant

C/T

snv

5.6E-02

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs10306121

PTGS1

122372369

intron variant

A/T

snv

6.5E-02

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs10306137

PTGS1

122376185

intron variant

C/T

snv

1.8E-02

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs10402729

NCAN

19244291

intron variant

T/C

snv

3.3E-02

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs10415849

GATAD2A

19394278

intron variant

C/T

snv

0.12

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012

dbSNP:

rs1042031

APOB

0.790

0.200

21002881

stop gained

C/A;T

snv

8.0E-06; 0.15

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.700

1.000

2012