DisGeNET - a database of gene-disease associations

Source: GWASDB

Disease: Serum total cholesterol measurement ×

Gene: MYBPHL ×

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:

rs12127701

rs12127701

MYBPHL

1

109295642

intron variant

A/G

snv

6.2E-02

CUI:	C1445957
Disease:	Serum total cholesterol measurement

Serum total cholesterol measurement

0.700

1.000

2012

2012

dbSNP:

rs17645031

rs17645031

MYBPHL

1

109292316

downstream gene variant

C/T

snv

7.9E-02

CUI:	C1445957
Disease:	Serum total cholesterol measurement

Serum total cholesterol measurement

0.700

1.000

2012

2012

dbSNP:

rs41306199

rs41306199

MYBPHL

1

109292541

3 prime UTR variant

C/T

snv

7.8E-02

CUI:	C1445957
Disease:	Serum total cholesterol measurement

Serum total cholesterol measurement

0.700

1.000

2012

2012

dbSNP:

rs413582

rs413582

MYBPHL

1

109308504

upstream gene variant

C/T

snv

0.37

CUI:	C1445957
Disease:	Serum total cholesterol measurement

Serum total cholesterol measurement

0.700

1.000

2012

2012

dbSNP:

rs629001

rs629001

MYBPHL

1

109296296

missense variant

C/G;T

snv

0.93

CUI:	C1445957
Disease:	Serum total cholesterol measurement

Serum total cholesterol measurement

0.700

1.000

2012

2012