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rs121918643

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918643(C;C)
Make rs121918643(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position158680641
GeneSPTA1
is asnp
is mentioned by
dbSNPrs121918643
ebirs121918643
HLIrs121918643
Exacrs121918643
Varsomers121918643
Maprs121918643
PheGenIrs121918643
hapmaprs121918643
1000 genomesrs121918643
hgdprs121918643
ensemblrs121918643
gopubmedrs121918643
geneviewrs121918643
scholarrs121918643
googlers121918643
pharmgkbrs121918643
gwascentralrs121918643
openSNPrs121918643
23andMers121918643
23andMe allrs121918643
SNP Nexus

SNPshotrs121918643
SNPdbers121918643
MSV3drs121918643
GWAS Ctlgrs121918643
GMAF0.0009183
Max Magnitude0
OMIM182860
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121918643(C;C)
Alt rs121918643(C;C)
Reference rs121918643(T;T)
Significance Pathogenic
Disease Hereditary pyropoikilocytosis Elliptocytosis 2
Variation info
Gene SPTA1
CLNDBN Hereditary pyropoikilocytosis Elliptocytosis 2
Reversed 1
HGVS NC_000001.10:g.158650431A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013714.24, RCV000013715.23,