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rs121918639

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918639(C;T)
Make rs121918639(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position158685227
GeneSPTA1
is asnp
is mentioned by
dbSNPrs121918639
ebirs121918639
HLIrs121918639
Exacrs121918639
Varsomers121918639
Maprs121918639
PheGenIrs121918639
hapmaprs121918639
1000 genomesrs121918639
hgdprs121918639
ensemblrs121918639
gopubmedrs121918639
geneviewrs121918639
scholarrs121918639
googlers121918639
pharmgkbrs121918639
gwascentralrs121918639
openSNPrs121918639
23andMers121918639
23andMe allrs121918639
SNP Nexus

SNPshotrs121918639
SNPdbers121918639
MSV3drs121918639
GWAS Ctlgrs121918639
Max Magnitude0
OMIM182860
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918639(T;T)
Alt rs121918639(T;T)
Reference rs121918639(C;C)
Significance Pathogenic
Disease Elliptocytosis 2
Variation info
Gene SPTA1
CLNDBN Elliptocytosis 2
Reversed 1
HGVS NC_000001.10:g.158655017G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013705.24,