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rs147623570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147623570(C;T)
Make rs147623570(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position87902425
GeneCA5A
is asnp
is mentioned by
dbSNPrs147623570
ebirs147623570
HLIrs147623570
Exacrs147623570
Varsomers147623570
Maprs147623570
PheGenIrs147623570
hapmaprs147623570
1000 genomesrs147623570
hgdprs147623570
ensemblrs147623570
gopubmedrs147623570
geneviewrs147623570
scholarrs147623570
googlers147623570
pharmgkbrs147623570
gwascentralrs147623570
openSNPrs147623570
23andMers147623570
23andMe allrs147623570
SNP Nexus

SNPshotrs147623570
SNPdbers147623570
MSV3drs147623570
GWAS Ctlgrs147623570
Max Magnitude0
ClinVar
Risk rs147623570(T;T)
Alt rs147623570(T;T)
Reference rs147623570(C;C)
Significance Pathogenic
Disease Carbonic anhydrase VA deficiency
Variation info
Gene CA5A
CLNDBN Carbonic anhydrase VA deficiency, hyperammonemia due to
Reversed 0
HGVS NC_000016.9:g.87936031C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000114947.3,