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rs121908384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908384(A;A)
Make rs121908384(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235437471
GeneTBCE
is asnp
is mentioned by
dbSNPrs121908384
ebirs121908384
HLIrs121908384
Exacrs121908384
Varsomers121908384
Maprs121908384
PheGenIrs121908384
hapmaprs121908384
1000 genomesrs121908384
hgdprs121908384
ensemblrs121908384
gopubmedrs121908384
geneviewrs121908384
scholarrs121908384
googlers121908384
pharmgkbrs121908384
gwascentralrs121908384
openSNPrs121908384
23andMers121908384
23andMe allrs121908384
SNP Nexus

SNPshotrs121908384
SNPdbers121908384
MSV3drs121908384
GWAS Ctlgrs121908384
Max Magnitude0
OMIM604934
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908384(A;A)
Alt rs121908384(A;A)
Reference rs121908384(T;T)
Significance Pathogenic
Disease Hypoparathyroidism retardation dysmorphism syndrome
Variation info
Gene TBCE
CLNDBN Hypoparathyroidism retardation dysmorphism syndrome
Reversed 0
HGVS NC_000001.10:g.235600786T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005611.3,