DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs201518227 ×

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:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C1848701
Disease:	Elevated hepatic transaminase

Elevated hepatic transaminase

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C4022858
Disease:	Elevated aldolase level

Elevated aldolase level

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C0231712
Disease:	Waddling gait

Waddling gait

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C0231807
Disease:	Dyspnea on exertion

Dyspnea on exertion

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C4310731
Disease:	MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES

MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C3806467
Disease:	Respiratory insufficiency due to muscle weakness

Respiratory insufficiency due to muscle weakness

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C0011168
Disease:	Deglutition Disorders

Deglutition Disorders

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C4073168
Disease:	Abnormal lactate dehydrogenase activity

Abnormal lactate dehydrogenase activity

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C0333751
Disease:	Muscle fiber atrophy

Muscle fiber atrophy

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C0240421
Disease:	Progressive muscle weakness

Progressive muscle weakness

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C0241005
Disease:	Creatine phosphokinase serum increased

Creatine phosphokinase serum increased

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C0042024
Disease:	Urinary Incontinence

Urinary Incontinence

0.700

dbSNP:

rs201518227

rs201518227

TOR1AIP1

1.000

1

179917914

missense variant

C/T

snv

3.2E-05

5.6E-05

CUI:	C4021726
Disease:	EMG: myopathic abnormalities

EMG: myopathic abnormalities

0.700