rs121434264

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	5	Hyperparathyroidism
(T;T)	0	common in clinvar

Make rs121434264(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

193125171

Gene	CDC73, LOC101929160

is a	snp
is	mentioned by
dbSNP	rs121434264
dbSNP (classic)	rs121434264
ClinGen	rs121434264
ebi	rs121434264
HLI	rs121434264
Exac	rs121434264
Gnomad	rs121434264
Varsome	rs121434264
LitVar	rs121434264
Map	rs121434264
PheGenI	rs121434264
Biobank	rs121434264
1000 genomes	rs121434264
hgdp	rs121434264
ensembl	rs121434264
geneview	rs121434264
scholar	rs121434264
google	rs121434264
pharmgkb	rs121434264
gwascentral	rs121434264
openSNP	rs121434264
23andMe	rs121434264
SNPshot	rs121434264
SNPdbe	rs121434264
MSV3d	rs121434264
GWAS Ctlg	rs121434264

Max Magnitude

5

OMIM	607393
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121434264(C;C)
Alt	rs121434264(C;C)
Reference	Rs121434264(T;T)
Significance	Pathogenic
Disease	Hyperparathyroidism 1
Variation	info
Gene	CDC73 LOC101929160
CLNDBN	Hyperparathyroidism 1
Reversed	0
HGVS	NC_000001.10:g.193094301T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003431.2,