rs121434604

Orientation

plus

Stabilized

plus

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

Make rs121434604(C;T)

Make rs121434604(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

46895866

Gene

PTH1R

is a	snp
is	mentioned by
dbSNP	rs121434604
ClinGen	rs121434604
ebi	rs121434604
HLI	rs121434604
Exac	rs121434604
Varsome	rs121434604
Map	rs121434604
PheGenI	rs121434604
hapmap	rs121434604
1000 genomes	rs121434604
hgdp	rs121434604
ensembl	rs121434604
gopubmed	rs121434604
geneview	rs121434604
scholar	rs121434604
google	rs121434604
pharmgkb	rs121434604
gwascentral	rs121434604
openSNP	rs121434604
23andMe	rs121434604
23andMe all	rs121434604
SNP Nexus
SNPshot	rs121434604
SNPdbe	rs121434604
MSV3d	rs121434604
GWAS Ctlg	rs121434604

Max Magnitude

0

OMIM	168468
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121434604(T;T)
Alt	rs121434604(T;T)
Reference	Rs121434604(C;C)
Significance	Pathogenic
Disease	Chondrodysplasia Blomstrand type
Variation	info
Gene	PTH1R
CLNDBN	Chondrodysplasia Blomstrand type
Reversed	0
HGVS	NC_000003.11:g.46937356C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014757.26,