rs121434601

Orientation

plus

Stabilized

plus

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

Make rs121434601(C;T)

Make rs121434601(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

46898097

Gene

PTH1R

is a	snp
is	mentioned by
dbSNP	rs121434601
dbSNP (classic)	rs121434601
ClinGen	rs121434601
ebi	rs121434601
HLI	rs121434601
Exac	rs121434601
Gnomad	rs121434601
Varsome	rs121434601
LitVar	rs121434601
Map	rs121434601
PheGenI	rs121434601
Biobank	rs121434601
1000 genomes	rs121434601
hgdp	rs121434601
ensembl	rs121434601
geneview	rs121434601
scholar	rs121434601
google	rs121434601
pharmgkb	rs121434601
gwascentral	rs121434601
openSNP	rs121434601
23andMe	rs121434601
SNPshot	rs121434601
SNPdbe	rs121434601
MSV3d	rs121434601
GWAS Ctlg	rs121434601

Max Magnitude

0

ClinVar
Risk	rs121434601(T;T)
Alt	rs121434601(T;T)
Reference	Rs121434601(C;C)
Significance	Probable-non-pathogenic
Disease	Metaphyseal chondrodysplasia Chondrodysplasia not specified
Variation	info
Gene	PTH1R
CLNDBN	Metaphyseal chondrodysplasia Chondrodysplasia not specified
Reversed	0
HGVS	NC_000003.11:g.46939587C>T
CLNSRC
CLNACC	RCV000340826.1, RCV000396747.1, RCV000400764.1,

[PMID 28146470] Rare and low-frequency coding variants alter human adult height.