DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs372267274 ×

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:

rs372267274

MUTYH

0.882

0.120

45333171

splice acceptor variant

C/G;T

snv

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

1.000

1987

2014

dbSNP:

rs372267274

MUTYH

0.882

0.120

45333171

splice acceptor variant

C/G;T

snv

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

1.000

2003

2013

dbSNP:

rs372267274

MUTYH

0.882

0.120

45333171

splice acceptor variant

C/G;T

snv

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

1.000

2004

2013

dbSNP:

rs372267274

MUTYH

0.882

0.120

45333171

splice acceptor variant

C/G;T

snv

CUI:	C0038356
Disease:	Stomach Neoplasms

Stomach Neoplasms

0.700

dbSNP:

rs372267274

MUTYH

0.882

0.120

45333171

splice acceptor variant

C/G;T

snv

CUI:	C0206711
Disease:	Pilomatrixoma

Pilomatrixoma

0.700