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rs121918640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918640(C;T)
Make rs121918640(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position158685251
GeneSPTA1
is asnp
is mentioned by
dbSNPrs121918640
ebirs121918640
HLIrs121918640
Exacrs121918640
Varsomers121918640
Maprs121918640
PheGenIrs121918640
hapmaprs121918640
1000 genomesrs121918640
hgdprs121918640
ensemblrs121918640
gopubmedrs121918640
geneviewrs121918640
scholarrs121918640
googlers121918640
pharmgkbrs121918640
gwascentralrs121918640
openSNPrs121918640
23andMers121918640
23andMe allrs121918640
SNP Nexus

SNPshotrs121918640
SNPdbers121918640
MSV3drs121918640
GWAS Ctlgrs121918640
GMAF0.0004591
Max Magnitude0
OMIM182860
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918640(A,T;A,T)
Alt rs121918640(A,T;A,T)
Reference rs121918640(C;C)
Significance Pathogenic
Disease Elliptocytosis 2
Variation info
Gene SPTA1
CLNDBN Elliptocytosis 2
Reversed 1
HGVS NC_000001.10:g.158655041G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013706.24,