rs121908384

Orientation

plus

Stabilized

plus

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

Make rs121908384(A;A)

Make rs121908384(A;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235437471

Gene

TBCE

is a	snp
is	mentioned by
dbSNP	rs121908384
dbSNP (classic)	rs121908384
ClinGen	rs121908384
ebi	rs121908384
HLI	rs121908384
Exac	rs121908384
Gnomad	rs121908384
Varsome	rs121908384
LitVar	rs121908384
Map	rs121908384
PheGenI	rs121908384
Biobank	rs121908384
1000 genomes	rs121908384
hgdp	rs121908384
ensembl	rs121908384
geneview	rs121908384
scholar	rs121908384
google	rs121908384
pharmgkb	rs121908384
gwascentral	rs121908384
openSNP	rs121908384
23andMe	rs121908384
SNPshot	rs121908384
SNPdbe	rs121908384
MSV3d	rs121908384
GWAS Ctlg	rs121908384

Max Magnitude

0

OMIM	604934
Desc
Variant	0003
Related	also

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,