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rs118203933

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203933(C;T)
Make rs118203933(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position85473779
GeneCA2
is asnp
is mentioned by
dbSNPrs118203933
ebirs118203933
HLIrs118203933
Exacrs118203933
Varsomers118203933
Maprs118203933
PheGenIrs118203933
hapmaprs118203933
1000 genomesrs118203933
hgdprs118203933
ensemblrs118203933
gopubmedrs118203933
geneviewrs118203933
scholarrs118203933
googlers118203933
pharmgkbrs118203933
gwascentralrs118203933
openSNPrs118203933
23andMers118203933
23andMe allrs118203933
SNP Nexus

SNPshotrs118203933
SNPdbers118203933
MSV3drs118203933
GWAS Ctlgrs118203933
Max Magnitude0
OMIM611492
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203933(T;T)
Alt rs118203933(T;T)
Reference rs118203933(C;C)
Significance Pathogenic
Disease Osteopetrosis with renal tubular acidosis
Variation info
Gene CA2
CLNDBN Osteopetrosis with renal tubular acidosis
Reversed 0
HGVS NC_000008.10:g.86386008C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000964.3,