rs121909578

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121909578(A;A)

Make rs121909578(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

85328606

Gene

CA1

is a	snp
is	mentioned by
dbSNP	rs121909578
dbSNP (classic)	rs121909578
ClinGen	rs121909578
ebi	rs121909578
HLI	rs121909578
Exac	rs121909578
Gnomad	rs121909578
Varsome	rs121909578
LitVar	rs121909578
Map	rs121909578
PheGenI	rs121909578
Biobank	rs121909578
1000 genomes	rs121909578
hgdp	rs121909578
ensembl	rs121909578
geneview	rs121909578
scholar	rs121909578
google	rs121909578
pharmgkb	rs121909578
gwascentral	rs121909578
openSNP	rs121909578
23andMe	rs121909578
SNPshot	rs121909578
SNPdbe	rs121909578
MSV3d	rs121909578
GWAS Ctlg	rs121909578

Max Magnitude

0

OMIM	114800
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121909578(A;A)
Alt	rs121909578(A;A)
Reference	Rs121909578(G;G)
Significance	Pathogenic
Disease	Carbonic anhydrase I deficiency
Variation	info
Gene	CA1
CLNDBN	Carbonic anhydrase I deficiency
Reversed	1
HGVS	NC_000008.10:g.86240835C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019172.27,