DisGeNET - a database of gene-disease associations

CARBONIC ANHYDRASE II VARIANT, C4017251

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:

rs118203931

rs118203931

CA2 ; CA3-AS1

1

8

85465289

missense variant

A/C;G

snv

4.6E-04; 4.0E-06

0.700

dbSNP:

rs118203932

rs118203932

CA2

1

8

85480713

missense variant

C/A;G

snv

8.0E-06

0.700