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rs121918642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918642(A;A)
Make rs121918642(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position158685290
GeneSPTA1
is asnp
is mentioned by
dbSNPrs121918642
ebirs121918642
HLIrs121918642
Exacrs121918642
Varsomers121918642
Maprs121918642
PheGenIrs121918642
hapmaprs121918642
1000 genomesrs121918642
hgdprs121918642
ensemblrs121918642
gopubmedrs121918642
geneviewrs121918642
scholarrs121918642
googlers121918642
pharmgkbrs121918642
gwascentralrs121918642
openSNPrs121918642
23andMers121918642
23andMe allrs121918642
SNP Nexus

SNPshotrs121918642
SNPdbers121918642
MSV3drs121918642
GWAS Ctlgrs121918642
Merged fromRs28934005
Max Magnitude0
OMIM182860
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918642(A,T;A,T)
Alt rs121918642(A,T;A,T)
Reference rs121918642(C;C)
Significance Pathogenic
Disease Elliptocytosis 2 Hereditary pyropoikilocytosis
Variation info
Gene SPTA1
CLNDBN Elliptocytosis 2 Hereditary pyropoikilocytosis
Reversed 1
HGVS NC_000001.10:g.158655080G>A; NC_000001.10:g.158655080G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013710.25, RCV000013711.24, RCV000013708.18, RCV000013709.25,