rs104894271

Orientation

minus

Stabilized

minus

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

Make rs104894271(C;C)

Make rs104894271(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

13492804

Gene

PTH

is a	snp
is	mentioned by
dbSNP	rs104894271
dbSNP (classic)	rs104894271
ClinGen	rs104894271
ebi	rs104894271
HLI	rs104894271
Exac	rs104894271
Gnomad	rs104894271
Varsome	rs104894271
LitVar	rs104894271
Map	rs104894271
PheGenI	rs104894271
Biobank	rs104894271
1000 genomes	rs104894271
hgdp	rs104894271
ensembl	rs104894271
geneview	rs104894271
scholar	rs104894271
google	rs104894271
pharmgkb	rs104894271
gwascentral	rs104894271
openSNP	rs104894271
23andMe	rs104894271
SNPshot	rs104894271
SNPdbe	rs104894271
MSV3d	rs104894271
GWAS Ctlg	rs104894271

Max Magnitude

0

OMIM	168450
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894271(C;C)
Alt	rs104894271(C;C)
Reference	Rs104894271(T;T)
Significance	Pathogenic
Disease	Hypoparathyroidism familial isolated
Variation	info
Gene	PTH
CLNDBN	Hypoparathyroidism familial isolated
Reversed	1
HGVS	NC_000011.9:g.13514351A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014764.25,