DisGeNET - a database of gene-disease associations

Source: CURATED

Variant: rs778405030 ×

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:

rs778405030

rs778405030

NF1

0.827

0.280

17

31206297

stop gained

C/T

snv

8.0E-06; 4.0E-06

CUI:	C0027831
Disease:	Neurofibromatosis 1

Neurofibromatosis 1

0.700

1.000

1995

2013

dbSNP:

rs778405030

rs778405030

NF1

0.827

0.280

17

31206297

stop gained

C/T

snv

8.0E-06; 4.0E-06

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

1.000

1995

2003

dbSNP:

rs778405030

rs778405030

NF1

0.827

0.280

17

31206297

stop gained

C/T

snv

8.0E-06; 4.0E-06

CUI:	C2931482
Disease:	Neurofibromatosis-Noonan syndrome

Neurofibromatosis-Noonan syndrome

0.700

dbSNP:

rs778405030

rs778405030

NF1

0.827

0.280

17

31206297

stop gained

C/T

snv

8.0E-06; 4.0E-06

CUI:	C0553586
Disease:	Cafe-au-lait macules with pulmonary stenosis

Cafe-au-lait macules with pulmonary stenosis

0.700

dbSNP:

rs778405030

rs778405030

NF1

0.827

0.280

17

31206297

stop gained

C/T

snv

8.0E-06; 4.0E-06

CUI:	C1834235
Disease:	NEUROFIBROMATOSIS, FAMILIAL SPINAL

NEUROFIBROMATOSIS, FAMILIAL SPINAL

0.700

dbSNP:

rs778405030

rs778405030

NF1

0.827

0.280

17

31206297

stop gained

C/T

snv

8.0E-06; 4.0E-06

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.700