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rs121918646

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918646(C;C)
Make rs121918646(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position64801797
GeneSPTB
is asnp
is mentioned by
dbSNPrs121918646
ebirs121918646
HLIrs121918646
Exacrs121918646
Varsomers121918646
Maprs121918646
PheGenIrs121918646
hapmaprs121918646
1000 genomesrs121918646
hgdprs121918646
ensemblrs121918646
gopubmedrs121918646
geneviewrs121918646
scholarrs121918646
googlers121918646
pharmgkbrs121918646
gwascentralrs121918646
openSNPrs121918646
23andMers121918646
23andMe allrs121918646
SNP Nexus

SNPshotrs121918646
SNPdbers121918646
MSV3drs121918646
GWAS Ctlgrs121918646
Max Magnitude0
OMIM182870
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918646(C;C)
Alt rs121918646(C;C)
Reference rs121918646(T;T)
Significance Pathogenic
Disease Spherocytosis type 2
Variation info
Gene SPTB
CLNDBN Spherocytosis type 2
Reversed 1
HGVS NC_000014.8:g.65268515A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013684.24,