DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1559931177 ×

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:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C1859236
Disease:	Prolonged neonatal jaundice

Prolonged neonatal jaundice

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C1820737
Disease:	Temperature instability

Temperature instability

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C0232466
Disease:	Feeding difficulties

Feeding difficulties

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C1855650
Disease:	Birth length less than 3rd percentile

Birth length less than 3rd percentile

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C3277226
Disease:	Restrictive ventilatory defect

Restrictive ventilatory defect

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C0235991
Disease:	Small for gestational age (disorder)

Small for gestational age (disorder)

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C1848980
Disease:	Developmental stagnation

Developmental stagnation

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C2751582
Disease:	Mitochondrial respiratory chain defects

Mitochondrial respiratory chain defects

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C1295585
Disease:	Decreased vibratory sense

Decreased vibratory sense

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C4023104
Disease:	Intermittent painful muscle spasms

Intermittent painful muscle spasms

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C1837108
Disease:	Decreased muscle mass

Decreased muscle mass

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C1836843
Disease:	Progressive inability to walk

Progressive inability to walk

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C3887485
Disease:	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1

MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C0332615
Disease:	Myopathic facies

Myopathic facies

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C0700078
Disease:	Decreased tendon reflex

Decreased tendon reflex

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C0428977
Disease:	Bradycardia

Bradycardia

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C1834664
Disease:	Nasal, dysarthic speech

Nasal, dysarthic speech

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C1836923
Disease:	Gastrointestinal dysmotility

Gastrointestinal dysmotility

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C0239998
Disease:	Recurrent infections

Recurrent infections

0.700

dbSNP:

rs1559931177

QRICH1

0.827

0.120

49047207

stop gained

G/A

snv

CUI:	C0231712
Disease:	Waddling gait

Waddling gait

0.700