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rs121918637

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918637(G;T)
Make rs121918637(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position158685237
GeneSPTA1
is asnp
is mentioned by
dbSNPrs121918637
ebirs121918637
HLIrs121918637
Exacrs121918637
Varsomers121918637
Maprs121918637
PheGenIrs121918637
hapmaprs121918637
1000 genomesrs121918637
hgdprs121918637
ensemblrs121918637
gopubmedrs121918637
geneviewrs121918637
scholarrs121918637
googlers121918637
pharmgkbrs121918637
gwascentralrs121918637
openSNPrs121918637
23andMers121918637
23andMe allrs121918637
SNP Nexus

SNPshotrs121918637
SNPdbers121918637
MSV3drs121918637
GWAS Ctlgrs121918637
Max Magnitude0
OMIM182860
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918637(T;T)
Alt rs121918637(T;T)
Reference rs121918637(G;G)
Significance Pathogenic
Disease Hereditary pyropoikilocytosis Elliptocytosis 2
Variation info
Gene SPTA1
CLNDBN Hereditary pyropoikilocytosis Elliptocytosis 2
Reversed 1
HGVS NC_000001.10:g.158655027C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013702.24, RCV000013703.23,