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rs2228063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common
(A;G) None
(G;G) None
ReferenceGRCh38 38.1/141
Chromosome8
Position85480760
GeneCA2
is asnp
is mentioned by
dbSNPrs2228063
ebirs2228063
HLIrs2228063
Exacrs2228063
Varsomers2228063
Maprs2228063
PheGenIrs2228063
hapmaprs2228063
1000 genomesrs2228063
hgdprs2228063
ensemblrs2228063
gopubmedrs2228063
geneviewrs2228063
scholarrs2228063
googlers2228063
pharmgkbrs2228063
gwascentralrs2228063
openSNPrs2228063
23andMers2228063
23andMe allrs2228063
SNP Nexus

SNPshotrs2228063
SNPdbers2228063
MSV3drs2228063
GWAS Ctlgrs2228063
GMAF0.02847
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM259730
DescCARBONIC ANHYDRASE II VARIANT
Variant0001
Relatedalso
OMIM611492
Desc
Variant0001
Relatedalso


ClinVar
Risk rs2228063(G;G)
Alt rs2228063(G;G)
Reference rs2228063(A;A)
Significance Pathogenic
Disease CARBONIC ANHYDRASE II VARIANT
Variation info
Gene CA2
CLNDBN CARBONIC ANHYDRASE II VARIANT
Reversed 0
HGVS NC_000008.10:g.86392989A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000961.3,



GET Evidence
CA2-N252D
aa_change Asn252Asp
aa_change_short N252D
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0300242
summary