DisGeNET - a database of gene-disease associations

Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism, C1832167

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:

rs374385878

rs374385878

ASPH

1

1.000

0.120

8

61503433

missense variant

G/A

snv

2.4E-05

3.5E-05

0.800

dbSNP:

rs1563580963

rs1563580963

ASPH

1

1.000

0.120

8

61684121

stop gained

C/T

snv

0.700

dbSNP:

rs879255574

rs879255574

ASPH

1

1.000

0.120

8

61526021

frameshift variant

AGGTT/CCC

delins

0.700