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rs121918644

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918644(A;G)
Make rs121918644(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position158685229
GeneSPTA1
is asnp
is mentioned by
dbSNPrs121918644
ebirs121918644
HLIrs121918644
Exacrs121918644
Varsomers121918644
Maprs121918644
PheGenIrs121918644
hapmaprs121918644
1000 genomesrs121918644
hgdprs121918644
ensemblrs121918644
gopubmedrs121918644
geneviewrs121918644
scholarrs121918644
googlers121918644
pharmgkbrs121918644
gwascentralrs121918644
openSNPrs121918644
23andMers121918644
23andMe allrs121918644
SNP Nexus

SNPshotrs121918644
SNPdbers121918644
MSV3drs121918644
GWAS Ctlgrs121918644
Max Magnitude0
OMIM182860
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121918644(G;G)
Alt rs121918644(G;G)
Reference rs121918644(A;A)
Significance Pathogenic
Disease Hereditary pyropoikilocytosis
Variation info
Gene SPTA1
CLNDBN Hereditary pyropoikilocytosis
Reversed 1
HGVS NC_000001.10:g.158655019T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013716.25,