DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1564062144 ×

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:

rs1564062144

rs1564062144

HNRNPK

1.000

9

83972190

splice acceptor variant

C/T

snv

CUI:	C1861866
Disease:	Aplasia/Hypoplasia of the corpus callosum

Aplasia/Hypoplasia of the corpus callosum

0.700

dbSNP:

rs1564062144

rs1564062144

HNRNPK

1.000

9

83972190

splice acceptor variant

C/T

snv

CUI:	C4225274
Disease:	AU-KLINE SYNDROME

AU-KLINE SYNDROME

0.700

dbSNP:

rs1564062144

rs1564062144

HNRNPK

1.000

9

83972190

splice acceptor variant

C/T

snv

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

Small for gestational age (disorder)

0.700

dbSNP:

rs1564062144

rs1564062144

HNRNPK

1.000

9

83972190

splice acceptor variant

C/T

snv

CUI:	C1386048
Disease:	Intrauterine retardation

Intrauterine retardation

0.700

dbSNP:

rs1564062144

rs1564062144

HNRNPK

1.000

9

83972190

splice acceptor variant

C/T

snv

CUI:	C0018818
Disease:	Ventricular Septal Defects

Ventricular Septal Defects

0.700

dbSNP:

rs1564062144

rs1564062144

HNRNPK

1.000

9

83972190

splice acceptor variant

C/T

snv

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

0.700

dbSNP:

rs1564062144

rs1564062144

HNRNPK

1.000

9

83972190

splice acceptor variant

C/T

snv

CUI:	C1842364
Disease:	Central hypotonia

Central hypotonia

0.700