DisGeNET - a database of gene-disease associations

Melanoma astrocytoma syndrome, C1835042

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:

rs1800586

rs1800586

CDKN2A

5

0.851

0.240

9

21974861

5 prime UTR variant

C/A;G;T

snv

4.3E-05; 6.1E-05; 8.7E-06

0.700

dbSNP:

rs104894097

rs104894097

CDKN2A

8

0.807

0.240

9

21974757

missense variant

C/A;G;T

snv

1.7E-05; 1.3E-05

0.700