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rs121918638

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918638(G;T)
Make rs121918638(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position158685235
GeneSPTA1
is asnp
is mentioned by
dbSNPrs121918638
ebirs121918638
HLIrs121918638
Exacrs121918638
Varsomers121918638
Maprs121918638
PheGenIrs121918638
hapmaprs121918638
1000 genomesrs121918638
hgdprs121918638
ensemblrs121918638
gopubmedrs121918638
geneviewrs121918638
scholarrs121918638
googlers121918638
pharmgkbrs121918638
gwascentralrs121918638
openSNPrs121918638
23andMers121918638
23andMe allrs121918638
SNP Nexus

SNPshotrs121918638
SNPdbers121918638
MSV3drs121918638
GWAS Ctlgrs121918638
Max Magnitude0
OMIM182860
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918638(T;T)
Alt rs121918638(T;T)
Reference rs121918638(G;G)
Significance Pathogenic
Disease Elliptocytosis 2
Variation info
Gene SPTA1
CLNDBN Elliptocytosis 2
Reversed 1
HGVS NC_000001.10:g.158655025C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013704.25,