rs36094464

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;T)	0.5	most likely benign, though reported years ago to be pathogenic

Make rs36094464(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

87612388

Gene

DSPP

is a	snp
is	mentioned by
dbSNP	rs36094464
dbSNP (classic)	rs36094464
ClinGen	rs36094464
ebi	rs36094464
HLI	rs36094464
Exac	rs36094464
Gnomad	rs36094464
Varsome	rs36094464
LitVar	rs36094464
Map	rs36094464
PheGenI	rs36094464
Biobank	rs36094464
1000 genomes	rs36094464
hgdp	rs36094464
ensembl	rs36094464
geneview	rs36094464
scholar	rs36094464
google	rs36094464
pharmgkb	rs36094464
gwascentral	rs36094464
openSNP	rs36094464
23andMe	rs36094464
SNPshot	rs36094464
SNPdbe	rs36094464
MSV3d	rs36094464
GWAS Ctlg	rs36094464

GMAF

0.1088

Max Magnitude

0.5

ClinVar
Risk	rs36094464(T;T)
Alt	rs36094464(T;T)
Reference	Rs36094464(A;A)
Significance	Other
Disease	Dentinogenesis imperfecta - Shield's type II not specified
Variation	info
Gene	DSPP
CLNDBN	Dentinogenesis imperfecta - Shield's type II not specified
Reversed	0
HGVS	NC_000004.11:g.88533540A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018354.27, RCV000242231.2,

[PMID 18797159] Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.