rs758937799

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AG;AG)	0	common in clinvar

Make rs758937799(-;-)

Make rs758937799(-;AG)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

235401545

Gene

TBCE

is a	snp
is	mentioned by
dbSNP	rs758937799
dbSNP (classic)	rs758937799
ClinGen	rs758937799
ebi	rs758937799
HLI	rs758937799
Exac	rs758937799
Gnomad	rs758937799
Varsome	rs758937799
LitVar	rs758937799
Map	rs758937799
PheGenI	rs758937799
Biobank	rs758937799
1000 genomes	rs758937799
hgdp	rs758937799
ensembl	rs758937799
geneview	rs758937799
scholar	rs758937799
google	rs758937799
pharmgkb	rs758937799
gwascentral	rs758937799
openSNP	rs758937799
23andMe	rs758937799
SNPshot	rs758937799
SNPdbe	rs758937799
MSV3d	rs758937799
GWAS Ctlg	rs758937799

Max Magnitude

0

ClinVar
Risk	rs758937799(-;-)
Alt	rs758937799(-;-)
Reference	Rs758937799(AG;AG)
Significance	Probable-Pathogenic
Disease	Hypoparathyroidism retardation dysmorphism syndrome Kenny-Caffey syndrome type 1
Variation	info
Gene	TBCE
CLNDBN	Hypoparathyroidism retardation dysmorphism syndrome Kenny-Caffey syndrome type 1
Reversed	0
HGVS	NC_000001.10:g.235564860_235564861delAG
CLNSRC
CLNACC	RCV000490495.1,