rs28942098

Orientation

plus

Stabilized

plus

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

Make rs28942098(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

193122203

Gene	CDC73, LOC101929160

is a	snp
is	mentioned by
dbSNP	rs28942098
dbSNP (classic)	rs28942098
ClinGen	rs28942098
ebi	rs28942098
HLI	rs28942098
Exac	rs28942098
Gnomad	rs28942098
Varsome	rs28942098
LitVar	rs28942098
Map	rs28942098
PheGenI	rs28942098
Biobank	rs28942098
1000 genomes	rs28942098
hgdp	rs28942098
ensembl	rs28942098
geneview	rs28942098
scholar	rs28942098
google	rs28942098
pharmgkb	rs28942098
gwascentral	rs28942098
openSNP	rs28942098
23andMe	rs28942098
SNPshot	rs28942098
SNPdbe	rs28942098
MSV3d	rs28942098
GWAS Ctlg	rs28942098

Max Magnitude

5

OMIM	607393
Desc	HYPERPARATHYROIDISM-JAW TUMOR SYNDROME
Variant	0001
Related	also

ClinVar
Risk	rs28942098(A;A)
Alt	rs28942098(A;A)
Reference	Rs28942098(G;G)
Significance	Pathogenic
Disease	Hyperparathyroidism 2
Variation	info
Gene	CDC73 LOC101929160
CLNDBN	Hyperparathyroidism 2
Reversed	0
HGVS	NC_000001.10:g.193091333G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003424.2,