rs767004810

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGCCACGAAGGG;AGCCACGAAGGG)	0	common in clinvar
(GGGAGCCACGAA;GGGAGCCACGAA)	0	common in clinvar

Make rs767004810(-;-)

Make rs767004810(-;GGGAGCCACGAA)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

235401553

Gene

TBCE

is a	snp
is	mentioned by
dbSNP	rs767004810
dbSNP (classic)	rs767004810
ClinGen	rs767004810
ebi	rs767004810
HLI	rs767004810
Exac	rs767004810
Gnomad	rs767004810
Varsome	rs767004810
LitVar	rs767004810
Map	rs767004810
PheGenI	rs767004810
Biobank	rs767004810
1000 genomes	rs767004810
hgdp	rs767004810
ensembl	rs767004810
geneview	rs767004810
scholar	rs767004810
google	rs767004810
pharmgkb	rs767004810
gwascentral	rs767004810
openSNP	rs767004810
23andMe	rs767004810
SNPshot	rs767004810
SNPdbe	rs767004810
MSV3d	rs767004810
GWAS Ctlg	rs767004810

Merged from

Rs786205075

Max Magnitude

0

ClinVar
Risk	rs767004810(-;-) Rs767004810(GGGAGCCACGAA;GGGAGCCACGAA)
Alt	rs767004810(-;-) Rs767004810(GGGAGCCACGAA;GGGAGCCACGAA)
Reference	Rs767004810(AGCCACGAAGGG;AGCCACGAAGGG)
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	RCV000005608.4, RCV000191990.3, RCV000224858.1,