rs80356650

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GT;GT)	0	common in clinvar
(I;I)	0	common genotype
(TG;TG)	0	common in clinvar

Make rs80356650(-;-)

Make rs80356650(-;GT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

193147903

Gene

CDC73

is a	snp
is	mentioned by
dbSNP	rs80356650
dbSNP (classic)	rs80356650
ClinGen	rs80356650
ebi	rs80356650
HLI	rs80356650
Exac	rs80356650
Gnomad	rs80356650
Varsome	rs80356650
LitVar	rs80356650
Map	rs80356650
PheGenI	rs80356650
Biobank	rs80356650
1000 genomes	rs80356650
hgdp	rs80356650
ensembl	rs80356650
geneview	rs80356650
scholar	rs80356650
google	rs80356650
pharmgkb	rs80356650
gwascentral	rs80356650
openSNP	rs80356650
23andMe	rs80356650
SNPshot	rs80356650
SNPdbe	rs80356650
MSV3d	rs80356650
GWAS Ctlg	rs80356650

Max Magnitude

0

ClinVar
Risk	rs80356650(-;-)
Alt	rs80356650(-;-)
Reference	Rs80356650(TG;TG)
Significance	Pathogenic
Disease	Parathyroid carcinoma
Variation	info
Gene	CDC73
CLNDBN	Parathyroid carcinoma
Reversed	0
HGVS	NC_000001.10:g.193117033_193117034delGT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020885.2,

[PMID 15070940] Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.