DisGeNET - a database of gene-disease associations

rs527656756, MTA3;HAAO

N. diseases: 21

Disease: Hypoplastic sacrum ×

Source: ALL

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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.

Hypoplastic sacrum

CUI:	C1970816
Disease:	Hypoplastic sacrum

2

0.716

0.400

2

42770143

frameshift variant

-/A

delins

1.7E-05

1.4E-05

0.700

1.000

2017

2017