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rs121918641

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918641(G;T)
Make rs121918641(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position158685289
GeneSPTA1
is asnp
is mentioned by
dbSNPrs121918641
ebirs121918641
HLIrs121918641
Exacrs121918641
Varsomers121918641
Maprs121918641
PheGenIrs121918641
hapmaprs121918641
1000 genomesrs121918641
hgdprs121918641
ensemblrs121918641
gopubmedrs121918641
geneviewrs121918641
scholarrs121918641
googlers121918641
pharmgkbrs121918641
gwascentralrs121918641
openSNPrs121918641
23andMers121918641
23andMe allrs121918641
SNP Nexus

SNPshotrs121918641
SNPdbers121918641
MSV3drs121918641
GWAS Ctlgrs121918641
Merged fromRs28934004
GMAF0.0
Max Magnitude0
OMIM182860
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918641(A,T;A,T)
Alt rs121918641(A,T;A,T)
Reference rs121918641(G;G)
Significance Pathogenic
Disease Elliptocytosis 2 Hereditary pyropoikilocytosis
Variation info
Gene SPTA1
CLNDBN Elliptocytosis 2 Hereditary pyropoikilocytosis
Reversed 1
HGVS NC_000001.10:g.158655079C>A; NC_000001.10:g.158655079C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013707.18, RCV000013712.23, RCV000013713.25,