DisGeNET - a database of gene-disease associations

Source: CURATED

Variant: rs397515734 ×

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:

rs397515734

rs397515734

APC

0.827

0.120

5

112792494

stop gained

C/T

snv

CUI:	C0032580
Disease:	Adenomatous Polyposis Coli

Adenomatous Polyposis Coli

0.710

1.000

1992

2014

dbSNP:

rs397515734

rs397515734

APC

0.827

0.120

5

112792494

stop gained

C/T

snv

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

1.000

1992

2015

dbSNP:

rs397515734

rs397515734

APC

0.827

0.120

5

112792494

stop gained

C/T

snv

CUI:	C2713442
Disease:	Polyposis, Adenomatous Intestinal

Polyposis, Adenomatous Intestinal

0.700

1.000

1992

2014

dbSNP:

rs397515734

rs397515734

APC

0.827

0.120

5

112792494

stop gained

C/T

snv

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.700

dbSNP:

rs397515734

rs397515734

APC

0.827

0.120

5

112792494

stop gained

C/T

snv

CUI:	C2239176
Disease:	Liver carcinoma

Liver carcinoma

0.700

dbSNP:

rs397515734

rs397515734

APC

0.827

0.120

5

112792494

stop gained

C/T

snv

CUI:	C1851124
Disease:	Desmoid disease, hereditary

Desmoid disease, hereditary

0.700

dbSNP:

rs397515734

rs397515734

APC

0.827

0.120

5

112792494

stop gained

C/T

snv

CUI:	C0038356
Disease:	Stomach Neoplasms

Stomach Neoplasms

0.700