Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909578(A;A)
Make rs121909578(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position85328606
GeneCA1
is asnp
is mentioned by
dbSNPrs121909578
ebirs121909578
HLIrs121909578
Exacrs121909578
Varsomers121909578
Maprs121909578
PheGenIrs121909578
hapmaprs121909578
1000 genomesrs121909578
hgdprs121909578
ensemblrs121909578
gopubmedrs121909578
geneviewrs121909578
scholarrs121909578
googlers121909578
pharmgkbrs121909578
gwascentralrs121909578
openSNPrs121909578
23andMers121909578
23andMe allrs121909578
SNP Nexus

SNPshotrs121909578
SNPdbers121909578
MSV3drs121909578
GWAS Ctlgrs121909578
Max Magnitude0
OMIM114800
Desc
Variant0002
Relatedalso
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,