DisGeNET - a database of gene-disease associations

Fingerprints, Absence of, C1852150

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:

rs1057519613

rs1057519613

SMARCAD1

2

1.000

0.120

4

94253672

splice donor variant

G/A;T

snv

0.700

dbSNP:

rs1114167276

rs1114167276

SMARCAD1

2

1.000

0.080

4

94253673

splice donor variant

T/C

snv

0.700

dbSNP:

rs1114167277

rs1114167277

SMARCAD1

1

4

94253676

splice region variant

G/C

snv

0.700