Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918649

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918649(G;G)
Make rs121918649(G;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position64767808
GeneSPTB
is asnp
is mentioned by
dbSNPrs121918649
dbSNP (classic)rs121918649
ClinGenrs121918649
ebirs121918649
HLIrs121918649
Exacrs121918649
Gnomadrs121918649
Varsomers121918649
LitVarrs121918649
Maprs121918649
PheGenIrs121918649
Biobankrs121918649
1000 genomesrs121918649
hgdprs121918649
ensemblrs121918649
geneviewrs121918649
scholarrs121918649
googlers121918649
pharmgkbrs121918649
gwascentralrs121918649
openSNPrs121918649
23andMers121918649
SNPshotrs121918649
SNPdbers121918649
MSV3drs121918649
GWAS Ctlgrs121918649
Max Magnitude0
OMIM182870
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918649(G;G)
Alt rs121918649(G;G)
Reference Rs121918649(T;T)
Significance Pathogenic
Disease Anemia
Variation info
Gene SPTB
CLNDBN Anemia, neonatal hemolytic, fatal and near-fatal
Reversed 1
HGVS NC_000014.8:g.65234526A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013691.22,