rs121912987

Orientation

plus

Stabilized

plus

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

Make rs121912987(G;T)

Make rs121912987(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

87612105

Gene

DSPP

is a	snp
is	mentioned by
dbSNP	rs121912987
dbSNP (classic)	rs121912987
ClinGen	rs121912987
ebi	rs121912987
HLI	rs121912987
Exac	rs121912987
Gnomad	rs121912987
Varsome	rs121912987
LitVar	rs121912987
Map	rs121912987
PheGenI	rs121912987
Biobank	rs121912987
1000 genomes	rs121912987
hgdp	rs121912987
ensembl	rs121912987
geneview	rs121912987
scholar	rs121912987
google	rs121912987
pharmgkb	rs121912987
gwascentral	rs121912987
openSNP	rs121912987
23andMe	rs121912987
SNPshot	rs121912987
SNPdbe	rs121912987
MSV3d	rs121912987
GWAS Ctlg	rs121912987

Max Magnitude

0

OMIM	125485
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912987(T;T)
Alt	rs121912987(T;T)
Reference	Rs121912987(G;G)
Significance	Pathogenic
Disease	Deafness Dentinogenesis imperfecta - Shield's type II Dentinogenesis imperfecta - Shield's type III
Variation	info
Gene	DSPP
CLNDBN	Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta - Shield's type II Dentinogenesis imperfecta - Shield's type III
Reversed	0
HGVS	NC_000004.11:g.88533257G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018350.29, RCV000018351.29, RCV000018352.29,