DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs28937900 ×

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:

rs28937900

rs28937900

FKRP

0.752

0.160

19

46756276

missense variant

C/A;T

snv

1.0E-03

CUI:	C0518656
Disease:	Chronic fatigue

Chronic fatigue

0.700

dbSNP:

rs28937900

rs28937900

FKRP

0.752

0.160

19

46756276

missense variant

C/A;T

snv

1.0E-03

CUI:	C0036439
Disease:	Scoliosis, unspecified

Scoliosis, unspecified

0.700

dbSNP:

rs28937900

rs28937900

FKRP

0.752

0.160

19

46756276

missense variant

C/A;T

snv

1.0E-03

CUI:	C4022858
Disease:	Elevated aldolase level

Elevated aldolase level

0.700

dbSNP:

rs28937900

rs28937900

FKRP

0.752

0.160

19

46756276

missense variant

C/A;T

snv

1.0E-03

CUI:	C0030554
Disease:	Paresthesia

Paresthesia

0.700

dbSNP:

rs28937900

rs28937900

FKRP

0.752

0.160

19

46756276

missense variant

C/A;T

snv

1.0E-03

CUI:	C0027092
Disease:	Myopia

Myopia

0.700

dbSNP:

rs28937900

rs28937900

FKRP

0.752

0.160

19

46756276

missense variant

C/A;T

snv

1.0E-03

CUI:	C0241005
Disease:	Creatine phosphokinase serum increased

Creatine phosphokinase serum increased

0.700

dbSNP:

rs28937900

rs28937900

FKRP

0.752

0.160

19

46756276

missense variant

C/A;T

snv

1.0E-03

CUI:	C0042571
Disease:	Vertigo

Vertigo

0.700

dbSNP:

rs28937900

rs28937900

FKRP

0.752

0.160

19

46756276

missense variant

C/A;T

snv

1.0E-03

CUI:	C0003706
Disease:	Arachnodactyly

Arachnodactyly

0.700