rs587777316

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(T;T)	0	common in clinvar

Make rs587777316(A;G)

Make rs587777316(G;G)

Reference

GRCh38 38.1/142

Chromosome

16

Position

87891876

Gene

CA5A

is a	snp
is	mentioned by
dbSNP	rs587777316
dbSNP (classic)	rs587777316
ClinGen	rs587777316
ebi	rs587777316
HLI	rs587777316
Exac	rs587777316
Gnomad	rs587777316
Varsome	rs587777316
LitVar	rs587777316
Map	rs587777316
PheGenI	rs587777316
Biobank	rs587777316
1000 genomes	rs587777316
hgdp	rs587777316
ensembl	rs587777316
geneview	rs587777316
scholar	rs587777316
google	rs587777316
pharmgkb	rs587777316
gwascentral	rs587777316
openSNP	rs587777316
23andMe	rs587777316
SNPshot	rs587777316
SNPdbe	rs587777316
MSV3d	rs587777316
GWAS Ctlg	rs587777316

Max Magnitude

0

ClinVar
Risk	Rs587777316(A;A) rs587777316(G;G)
Alt	Rs587777316(A;A) rs587777316(G;G)
Reference	Rs587777316(T;T)
Significance	Pathogenic
Disease	Carbonic anhydrase VA deficiency
Variation	info
Gene	CA5A
CLNDBN	Carbonic anhydrase VA deficiency, hyperammonemia due to
Reversed	1
HGVS	NC_000016.9:g.87925482A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000114946.3,