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rs118203934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203934(G;G)
Make rs118203934(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position85465357
GeneCA2, LOC100996348
is asnp
is mentioned by
dbSNPrs118203934
ebirs118203934
HLIrs118203934
Exacrs118203934
Varsomers118203934
Maprs118203934
PheGenIrs118203934
hapmaprs118203934
1000 genomesrs118203934
hgdprs118203934
ensemblrs118203934
gopubmedrs118203934
geneviewrs118203934
scholarrs118203934
googlers118203934
pharmgkbrs118203934
gwascentralrs118203934
openSNPrs118203934
23andMers118203934
23andMe allrs118203934
SNP Nexus

SNPshotrs118203934
SNPdbers118203934
MSV3drs118203934
GWAS Ctlgrs118203934
Max Magnitude0
OMIM611492
Desc
Variant0007
Relatedalso
ClinVar
Risk rs118203934(G;G)
Alt rs118203934(G;G)
Reference rs118203934(T;T)
Significance Pathogenic
Disease Osteopetrosis with renal tubular acidosis
Variation info
Gene CA3-AS1 CA2
CLNDBN Osteopetrosis with renal tubular acidosis
Reversed 0
HGVS NC_000008.10:g.86377586T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000967.3,