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rs121918634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918634(C;C)
Make rs121918634(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position158678434
GeneSPTA1
is asnp
is mentioned by
dbSNPrs121918634
ebirs121918634
HLIrs121918634
Exacrs121918634
Varsomers121918634
Maprs121918634
PheGenIrs121918634
hapmaprs121918634
1000 genomesrs121918634
hgdprs121918634
ensemblrs121918634
gopubmedrs121918634
geneviewrs121918634
scholarrs121918634
googlers121918634
pharmgkbrs121918634
gwascentralrs121918634
openSNPrs121918634
23andMers121918634
23andMe allrs121918634
SNP Nexus

SNPshotrs121918634
SNPdbers121918634
MSV3drs121918634
GWAS Ctlgrs121918634
Max Magnitude0
OMIM182860
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918634(C,G;C,G)
Alt rs121918634(C,G;C,G)
Reference rs121918634(T;T)
Significance Pathogenic
Disease Elliptocytosis 2
Variation info
Gene SPTA1
CLNDBN Elliptocytosis 2
Reversed 1
HGVS NC_000001.10:g.158648224A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013697.24,