Have questions? Visit https://www.reddit.com/r/SNPedia

rs118203931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203931(A;G)
Make rs118203931(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position85465289
GeneCA2, CA3-AS1
is asnp
is mentioned by
dbSNPrs118203931
dbSNP (classic)rs118203931
ClinGenrs118203931
ebirs118203931
HLIrs118203931
Exacrs118203931
Gnomadrs118203931
Varsomers118203931
LitVarrs118203931
Maprs118203931
PheGenIrs118203931
Biobankrs118203931
1000 genomesrs118203931
hgdprs118203931
ensemblrs118203931
geneviewrs118203931
scholarrs118203931
googlers118203931
pharmgkbrs118203931
gwascentralrs118203931
openSNPrs118203931
23andMers118203931
SNPshotrs118203931
SNPdbers118203931
MSV3drs118203931
GWAS Ctlgrs118203931
Max Magnitude0
OMIM611492
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203931(C;C) rs118203931(G;G)
Alt rs118203931(C;C) rs118203931(G;G)
Reference Rs118203931(A;A)
Significance Pathogenic
Disease CARBONIC ANHYDRASE II VARIANT
Variation info
Gene CA3-AS1 CA2
CLNDBN CARBONIC ANHYDRASE II VARIANT
Reversed 0
HGVS NC_000008.10:g.86377518A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000962.3,