DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs188957694 ×

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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:

rs188957694

rs188957694

ESR1

0.882

0.080

6

151944218

missense variant

G/A;C

snv

4.0E-05

4.9E-05

CUI:	C0027651
Disease:	Neoplasms

Neoplasms

0.010

1.000

2005

2005

dbSNP:

rs188957694

rs188957694

ESR1

0.882

0.080

6

151944218

missense variant

G/A;C

snv

4.0E-05

4.9E-05

CUI:	C0596263
Disease:	Carcinogenesis

Carcinogenesis

0.010

1.000

2005

2005

dbSNP:

rs188957694

rs188957694

ESR1

0.882

0.080

6

151944218

missense variant

G/A;C

snv

4.0E-05

4.9E-05

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.010

1.000

2005

2005

dbSNP:

rs188957694

rs188957694

ESR1

0.882

0.080

6

151944218

missense variant

G/A;C

snv

4.0E-05

4.9E-05

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.010

1.000

2005

2005

dbSNP:

rs188957694

rs188957694

ESR1

0.882

0.080

6

151944218

missense variant

G/A;C

snv

4.0E-05

4.9E-05

CUI:	C4087397
Disease:	Mammary gland tumor

Mammary gland tumor

0.010

1.000

2005

2005

dbSNP:

rs188957694

rs188957694

ESR1

0.882

0.080

6

151944218

missense variant

G/A;C

snv

4.0E-05

4.9E-05

CUI:	C0007097
Disease:	Carcinoma

Carcinoma

0.010

1.000

2005

2005