DisGeNET - a database of gene-disease associations

Source: CLINVAR

Gene: SPRED1 ×

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:

rs1555392750

rs1555392750

SPRED1

1.000

0.080

15

38351208

frameshift variant

-/TA

delins

CUI:	C1969623
Disease:	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

dbSNP:

rs1555392759

rs1555392759

SPRED1

1.000

0.080

15

38351250

frameshift variant

CT/-

delins

CUI:	C1969623
Disease:	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

dbSNP:

rs1555392783

rs1555392783

SPRED1

1.000

0.080

15

38351424

frameshift variant

AGTT/-

delins

CUI:	C1969623
Disease:	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

dbSNP:

rs1555392791

rs1555392791

SPRED1

1.000

0.080

15

38351523

frameshift variant

-/A

delins

CUI:	C1969623
Disease:	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

dbSNP:

rs1566867209

rs1566867209

SPRED1

1.000

0.080

15

38322261

frameshift variant

-/A

delins

CUI:	C1969623
Disease:	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

dbSNP:

rs1566867246

rs1566867246

SPRED1

1.000

0.080

15

38322332

frameshift variant

CTTACGT/-

delins

CUI:	C1969623
Disease:	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

dbSNP:

rs1566868022

rs1566868022

SPRED1

1.000

0.080

15

38324766

frameshift variant

-/C

delins

CUI:	C1969623
Disease:	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

dbSNP:

rs1566868058

rs1566868058

SPRED1

1.000

0.080

15

38324810

splice donor variant

G/A

snv

CUI:	C1969623
Disease:	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

dbSNP:

rs1566876929

rs1566876929

SPRED1

1.000

0.080

15

38351373

frameshift variant

TAG/C

delins

CUI:	C1969623
Disease:	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700

dbSNP:

rs1566876941

rs1566876941

SPRED1

1.000

0.080

15

38351374

frameshift variant

AG/-

del

CUI:	C1969623
Disease:	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

0.700