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rs767004810

From SNPedia

Orientationplus
Geno Mag Summary
(GGGAGCCACGAA;GGGAGCCACGAA) 0 common in clinvar
Make rs767004810(-;-)
Make rs767004810(-;GGGAGCCACGAA)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position235401553
GeneTBCE
is asnp
is mentioned by
dbSNPrs767004810
ebirs767004810
HLIrs767004810
Exacrs767004810
Varsomers767004810
Maprs767004810
PheGenIrs767004810
hapmaprs767004810
1000 genomesrs767004810
hgdprs767004810
ensemblrs767004810
gopubmedrs767004810
geneviewrs767004810
scholarrs767004810
googlers767004810
pharmgkbrs767004810
gwascentralrs767004810
openSNPrs767004810
23andMers767004810
23andMe allrs767004810
SNP Nexus

SNPshotrs767004810
SNPdbers767004810
MSV3drs767004810
GWAS Ctlgrs767004810
Max Magnitude0
ClinVar
Risk rs767004810(;)
Alt rs767004810(;)
Reference rs767004810(GGGAGCCACGAA;GGGAGCCACGAA)
Significance Pathogenic
Disease Hypoparathyroidism retardation dysmorphism syndrome Kenny-Caffey syndrome type 1 not provided
Variation info
Gene TBCE
CLNDBN Hypoparathyroidism retardation dysmorphism syndrome Kenny-Caffey syndrome type 1 not provided
Reversed 0
HGVS NC_000001.10:g.235564872_235564883delGCCACGAAGGGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005608.3, RCV000191990.2, RCV000224858.1,