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rs121918635

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918635(A;C)
Make rs121918635(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position158672135
GeneSPTA1
is asnp
is mentioned by
dbSNPrs121918635
ebirs121918635
HLIrs121918635
Exacrs121918635
Varsomers121918635
Maprs121918635
PheGenIrs121918635
hapmaprs121918635
1000 genomesrs121918635
hgdprs121918635
ensemblrs121918635
gopubmedrs121918635
geneviewrs121918635
scholarrs121918635
googlers121918635
pharmgkbrs121918635
gwascentralrs121918635
openSNPrs121918635
23andMers121918635
23andMe allrs121918635
SNP Nexus

SNPshotrs121918635
SNPdbers121918635
MSV3drs121918635
GWAS Ctlgrs121918635
Max Magnitude0
OMIM182860
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918635(C;C)
Alt rs121918635(C;C)
Reference rs121918635(A;A)
Significance Pathogenic
Disease Elliptocytosis 2
Variation info
Gene SPTA1
CLNDBN Elliptocytosis 2
Reversed 1
HGVS NC_000001.10:g.158641925T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013698.18,