rs2228063

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common
(A;G)		None
(G;G)		None

Reference

GRCh38 38.1/141

Chromosome

8

Position

85480760

Gene

CA2

is a	snp
is	mentioned by
dbSNP	rs2228063
dbSNP (classic)	rs2228063
ClinGen	rs2228063
ebi	rs2228063
HLI	rs2228063
Exac	rs2228063
Gnomad	rs2228063
Varsome	rs2228063
LitVar	rs2228063
Map	rs2228063
PheGenI	rs2228063
Biobank	rs2228063
1000 genomes	rs2228063
hgdp	rs2228063
ensembl	rs2228063
geneview	rs2228063
scholar	rs2228063
google	rs2228063
pharmgkb	rs2228063
gwascentral	rs2228063
openSNP	rs2228063
23andMe	rs2228063
SNPshot	rs2228063
SNPdbe	rs2228063
MSV3d	rs2228063
GWAS Ctlg	rs2228063

GMAF

0.02847

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	259730
Desc	CARBONIC ANHYDRASE II VARIANT
Variant	0001
Related	also

OMIM	611492
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs2228063(G;G)
Alt	Rs2228063(G;G)
Reference	Rs2228063(A;A)
Significance	Pathogenic
Disease	CARBONIC ANHYDRASE II VARIANT Osteopetrosis with renal tubular acidosis
Variation	info
Gene	CA2
CLNDBN	CARBONIC ANHYDRASE II VARIANT Osteopetrosis with renal tubular acidosis
Reversed	0
HGVS	NC_000008.10:g.86392989A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000961.3, RCV000328868.1,