DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1555358382 ×

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:

rs1555358382

rs1555358382

GCH1

14

54844115

stop gained

G/A

snv

CUI:	C0575081
Disease:	Gait abnormality

Gait abnormality

0.700

dbSNP:

rs1555358382

rs1555358382

GCH1

14

54844115

stop gained

G/A

snv

CUI:	C1836150
Disease:	Gait imbalance

Gait imbalance

0.700

dbSNP:

rs1555358382

rs1555358382

GCH1

14

54844115

stop gained

G/A

snv

CUI:	C0151786
Disease:	Muscle Weakness

Muscle Weakness

0.700

dbSNP:

rs1555358382

rs1555358382

GCH1

14

54844115

stop gained

G/A

snv

CUI:	C0026837
Disease:	Muscle Rigidity

Muscle Rigidity

0.700

dbSNP:

rs1555358382

rs1555358382

GCH1

14

54844115

stop gained

G/A

snv

CUI:	C0037317
Disease:	Sleep disturbances

Sleep disturbances

0.700

dbSNP:

rs1555358382

rs1555358382

GCH1

14

54844115

stop gained

G/A

snv

CUI:	C0751837
Disease:	Gait Ataxia

Gait Ataxia

0.700