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rs121918636

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918636(C;C)
Make rs121918636(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position158678432
GeneSPTA1
is asnp
is mentioned by
dbSNPrs121918636
ebirs121918636
HLIrs121918636
Exacrs121918636
Varsomers121918636
Maprs121918636
PheGenIrs121918636
hapmaprs121918636
1000 genomesrs121918636
hgdprs121918636
ensemblrs121918636
gopubmedrs121918636
geneviewrs121918636
scholarrs121918636
googlers121918636
pharmgkbrs121918636
gwascentralrs121918636
openSNPrs121918636
23andMers121918636
23andMe allrs121918636
SNP Nexus

SNPshotrs121918636
SNPdbers121918636
MSV3drs121918636
GWAS Ctlgrs121918636
Max Magnitude0
OMIM182860
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918636(C;C)
Alt rs121918636(C;C)
Reference rs121918636(T;T)
Significance Pathogenic
Disease Elliptocytosis 2
Variation info
Gene SPTA1
CLNDBN Elliptocytosis 2
Reversed 1
HGVS NC_000001.10:g.158648222A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013701.24,