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rs786205075

From SNPedia

Merged intors767004810
Orientationplus
Stabilizedplus
Geno Mag Summary
(GGGAGCCACGAA;GGGAGCCACGAA) 0 common in clinvar
Make rs786205075(-;-)
Make rs786205075(-;AGCCACGAAGGG)
Make rs786205075(AGCCACGAAGGG;AGCCACGAAGGG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position235401556
GeneTBCE
is asnp
is mentioned by
dbSNPrs786205075
dbSNP (old)rs786205075
ClinGenrs786205075
ebirs786205075
HLIrs786205075
Exacrs786205075
Gnomadrs786205075
Varsomers786205075
Maprs786205075
PheGenIrs786205075
Biobankrs786205075
1000 genomesrs786205075
hgdprs786205075
ensemblrs786205075
gopubmedrs786205075
geneviewrs786205075
scholarrs786205075
googlers786205075
pharmgkbrs786205075
gwascentralrs786205075
openSNPrs786205075
23andMers786205075
23andMe allrs786205075
SNP Nexus

SNPshotrs786205075
SNPdbers786205075
MSV3drs786205075
GWAS Ctlgrs786205075
StatusMerged into rs767004810
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs786205075(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,