DisGeNET - a database of gene-disease associations

LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME, C4310653

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

Variant

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs886037827

rs886037827

FAM189A1 ; NSMCE3

1

1.000

15

29269080

missense variant

G/A

snv

7.0E-06

0.800

1.000

2016

2016

dbSNP:

rs199905054

rs199905054

FAM189A1 ; NSMCE3

1

1.000

15

29268916

missense variant

G/A

snv

7.6E-05

4.9E-05

0.800