DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1057518886 ×

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:

rs1057518886

rs1057518886

HMBS

11

119090043

frameshift variant

C/-

delins

CUI:	C0554980
Disease:	Moody (finding)

Moody (finding)

0.700

dbSNP:

rs1057518886

rs1057518886

HMBS

11

119090043

frameshift variant

C/-

delins

CUI:	C0000737
Disease:	Abdominal Pain

Abdominal Pain

0.700

dbSNP:

rs1057518886

rs1057518886

HMBS

11

119090043

frameshift variant

C/-

delins

CUI:	C0015967
Disease:	Fever

Fever

0.700

dbSNP:

rs1057518886

rs1057518886

HMBS

11

119090043

frameshift variant

C/-

delins

CUI:	C0042963
Disease:	Vomiting

Vomiting

0.700

dbSNP:

rs1057518886

rs1057518886

HMBS

11

119090043

frameshift variant

C/-

delins

CUI:	C3665386
Disease:	Abnormal vision

Abnormal vision

0.700