rs121434603

Orientation

plus

Stabilized

plus

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

Make rs121434603(C;T)

Make rs121434603(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

46903327

Gene

PTH1R

is a	snp
is	mentioned by
dbSNP	rs121434603
dbSNP (classic)	rs121434603
ClinGen	rs121434603
ebi	rs121434603
HLI	rs121434603
Exac	rs121434603
Gnomad	rs121434603
Varsome	rs121434603
LitVar	rs121434603
Map	rs121434603
PheGenI	rs121434603
Biobank	rs121434603
1000 genomes	rs121434603
hgdp	rs121434603
ensembl	rs121434603
geneview	rs121434603
scholar	rs121434603
google	rs121434603
pharmgkb	rs121434603
gwascentral	rs121434603
openSNP	rs121434603
23andMe	rs121434603
SNPshot	rs121434603
SNPdbe	rs121434603
MSV3d	rs121434603
GWAS Ctlg	rs121434603

Max Magnitude

0

OMIM	168468
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121434603(T;T)
Alt	rs121434603(T;T)
Reference	Rs121434603(C;C)
Significance	Pathogenic
Disease	Eiken skeletal dysplasia
Variation	info
Gene	PTH1R
CLNDBN	Eiken skeletal dysplasia
Reversed	0
HGVS	NC_000003.11:g.46944817C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014756.26,