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rs587777316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777316(A;G)
Make rs587777316(G;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position87891876
GeneCA5A
is asnp
is mentioned by
dbSNPrs587777316
ebirs587777316
HLIrs587777316
Exacrs587777316
Varsomers587777316
Maprs587777316
PheGenIrs587777316
hapmaprs587777316
1000 genomesrs587777316
hgdprs587777316
ensemblrs587777316
gopubmedrs587777316
geneviewrs587777316
scholarrs587777316
googlers587777316
pharmgkbrs587777316
gwascentralrs587777316
openSNPrs587777316
23andMers587777316
23andMe allrs587777316
SNP Nexus

SNPshotrs587777316
SNPdbers587777316
MSV3drs587777316
GWAS Ctlgrs587777316
Max Magnitude0
ClinVar
Risk rs587777316(A,G;A,G)
Alt rs587777316(A,G;A,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
CLNACC RCV000114946.3,