DisGeNET - a database of gene-disease associations

rs35378915, HBG1

N. diseases: 3

Source: ALL

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1

CUI:	C1841621
Disease:	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1

20

1.000

11

5249974

intron variant

C/T

snv

0.700

GREEK HPFH PHENOTYPE

CUI:	C4017537
Disease:	GREEK HPFH PHENOTYPE

1

1.000

11

5249974

intron variant

C/T

snv

0.700

SARDINIAN HPFH PHENOTYPE

CUI:	C3891817
Disease:	SARDINIAN HPFH PHENOTYPE

1

1.000

11

5249974

intron variant

C/T

snv

0.700