DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1 ×

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:

rs80359070

rs80359070

BRCA2

0.925

0.120

13

32363421

stop gained

T/A

snv

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.700

dbSNP:

rs80359130

rs80359130

BRCA2

0.827

0.200

13

32376769

missense variant

C/A;G;T

snv

8.0E-06

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.700

dbSNP:

rs80359180

rs80359180

BRCA2

0.827

0.280

13

32380085

stop gained

C/A;G;T

snv

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.700

dbSNP:

rs80359200

rs80359200

BRCA2

0.752

0.320

13

32394726

stop gained

C/A;G

snv

8.0E-06

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.700

dbSNP:

rs80359212

rs80359212

BRCA2

0.763

0.320

13

32394814

stop gained

C/T

snv

1.2E-05

4.2E-05

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.700

dbSNP:

rs80359550

rs80359550

BRCA2

0.807

0.280

13

32340301

frameshift variant

T/-

del

1.8E-04

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.700

dbSNP:

rs80359604

rs80359604

BRCA2

0.763

0.320

13

32329468

frameshift variant

GT/-

delins

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.700

dbSNP:

rs80359773

rs80359773

BRCA2

0.882

0.280

13

32398184

frameshift variant

-/A

delins

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.700

dbSNP:

rs81002897

rs81002897

BRCA2

0.882

0.280

13

32326614

splice donor variant

G/A;C

snv

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.700

dbSNP:

rs81002899

rs81002899

BRCA2

0.851

0.280

13

32326615

splice donor variant

T/A;C;G

snv

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.700

dbSNP:

rs886038169

rs886038169

BRCA2

0.925

0.120

13

32356455

frameshift variant

-/TA

delins

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.700