DisGeNET - a database of gene-disease associations

Hyperlipoproteinemia Type IV, C0020480

Source: ALL

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1064797075

rs1064797075

LPL

1

1.000

0.080

8

19955969

missense variant

T/C

snv

0.700

dbSNP:

rs11909217

rs11909217

LIPI

1

1.000

0.080

21

14189302

missense variant

C/T

snv

4.7E-03

7.4E-03

0.700

dbSNP:

rs201079485

rs201079485

ZPR1 ; APOA5

4

0.925

0.080

11

116790940

stop gained

G/A;T

snv

8.0E-05; 4.0E-06

0.700