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rs118203932

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203932(A;A)
Make rs118203932(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position85480713
GeneCA2
is asnp
is mentioned by
dbSNPrs118203932
dbSNP (classic)rs118203932
ClinGenrs118203932
ebirs118203932
HLIrs118203932
Exacrs118203932
Gnomadrs118203932
Varsomers118203932
LitVarrs118203932
Maprs118203932
PheGenIrs118203932
Biobankrs118203932
1000 genomesrs118203932
hgdprs118203932
ensemblrs118203932
geneviewrs118203932
scholarrs118203932
googlers118203932
pharmgkbrs118203932
gwascentralrs118203932
openSNPrs118203932
23andMers118203932
SNPshotrs118203932
SNPdbers118203932
MSV3drs118203932
GWAS Ctlgrs118203932
Max Magnitude0
OMIM611492
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203932(A;A) rs118203932(G;G)
Alt rs118203932(A;A) rs118203932(G;G)
Reference Rs118203932(C;C)
Significance Pathogenic
Disease CARBONIC ANHYDRASE II VARIANT
Variation info
Gene CA2
CLNDBN CARBONIC ANHYDRASE II VARIANT
Reversed 0
HGVS NC_000008.10:g.86392942C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000963.3,