rs6256

Orientation

minus

Stabilized

minus

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

Make rs6256(A;A)

Make rs6256(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

13492506

Gene

PTH

is a	snp
is	mentioned by
dbSNP	rs6256
dbSNP (classic)	rs6256
ClinGen	rs6256
ebi	rs6256
HLI	rs6256
Exac	rs6256
Gnomad	rs6256
Varsome	rs6256
LitVar	rs6256
Map	rs6256
PheGenI	rs6256
Biobank	rs6256
1000 genomes	rs6256
hgdp	rs6256
ensembl	rs6256
geneview	rs6256
scholar	rs6256
google	rs6256
pharmgkb	rs6256
gwascentral	rs6256
openSNP	rs6256
23andMe	rs6256
SNPshot	rs6256
SNPdbe	rs6256
MSV3d	rs6256
GWAS Ctlg	rs6256

GMAF

0.1272

Max Magnitude

0

?	(A;A) (A;C) (C;C)	28

OMIM	168450
Desc
Variant	0004
Related	also

[PMID 21637951] A common variant in the adiponectin gene and polycystic ovary syndrome risk

ClinVar
Risk	rs6256(A;A) rs6256(T;T)
Alt	rs6256(A;A) rs6256(T;T)
Reference	Rs6256(C;C)
Significance	Pathogenic
Disease	Primary hyperparathyroidism not specified Hypoparathyroidism familial isolated
Variation	info
Gene	PTH
CLNDBN	Primary hyperparathyroidism not specified Hypoparathyroidism familial isolated
Reversed	1
HGVS	NC_000011.9:g.13514053G>A; NC_000011.9:g.13514053G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014767.25, RCV000245073.1, RCV000334070.1,

[PMID 18551993] SNP combinations in chromosome-wide genes are associated with bone mineral density in Taiwanese women.

[PMID 29969593] Polymorphisms of PTH (Parathyroid Hormone) Gene and Risk of Kidney Stone Disease: A Case-Control Study from West Bengal, India.