DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Malignant hyperpyrexia due to anesthesia ×

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:

rs118192177

rs118192177

RYR1

0.851

0.160

19

38496283

missense variant

C/G;T

snv

2.0E-05

CUI:	C0024591
Disease:	Malignant hyperpyrexia due to anesthesia

Malignant hyperpyrexia due to anesthesia

0.720

1.000

1998

2015

dbSNP:

rs193922764

rs193922764

RYR1

0.925

0.040

19

38451842

missense variant

C/G;T

snv

4.0E-06; 4.0E-06

CUI:	C0024591
Disease:	Malignant hyperpyrexia due to anesthesia

Malignant hyperpyrexia due to anesthesia

0.700

1.000

2002

2015

dbSNP:

rs146876145

rs146876145

RYR1

0.925

0.040

19

38586140

missense variant

C/T

snv

2.8E-05

2.1E-05

CUI:	C0024591
Disease:	Malignant hyperpyrexia due to anesthesia

Malignant hyperpyrexia due to anesthesia

0.700

1.000

2002

2015

dbSNP:

rs193922839

rs193922839

RYR1

0.925

0.120

19

38534775

missense variant

G/A;C

snv

1.6E-05; 4.0E-06

CUI:	C0024591
Disease:	Malignant hyperpyrexia due to anesthesia

Malignant hyperpyrexia due to anesthesia

0.700

1.000

2007

2013

dbSNP:

rs1057518885

rs1057518885

RYR1

1.000

0.040

19

38561362

missense variant

G/A

snv

8.0E-06

CUI:	C0024591
Disease:	Malignant hyperpyrexia due to anesthesia

Malignant hyperpyrexia due to anesthesia

0.700

dbSNP:

rs193922781

rs193922781

RYR1

0.925

0.040

19

38485838

missense variant

C/T

snv

4.1E-06

1.4E-05

CUI:	C0024591
Disease:	Malignant hyperpyrexia due to anesthesia

Malignant hyperpyrexia due to anesthesia

0.700