rs869312980

Orientation

minus

Stabilized

minus

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

Make rs869312980(A;T)

Make rs869312980(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

4

Position

16176168

Gene

TAPT1

is a	snp
is	mentioned by
dbSNP	rs869312980
dbSNP (classic)	rs869312980
ClinGen	rs869312980
ebi	rs869312980
HLI	rs869312980
Exac	rs869312980
Gnomad	rs869312980
Varsome	rs869312980
LitVar	rs869312980
Map	rs869312980
PheGenI	rs869312980
Biobank	rs869312980
1000 genomes	rs869312980
hgdp	rs869312980
ensembl	rs869312980
geneview	rs869312980
scholar	rs869312980
google	rs869312980
pharmgkb	rs869312980
gwascentral	rs869312980
openSNP	rs869312980
23andMe	rs869312980
SNPshot	rs869312980
SNPdbe	rs869312980
MSV3d	rs869312980
GWAS Ctlg	rs869312980

Max Magnitude

0

ClinVar
Risk	rs869312980(T;T)
Alt	rs869312980(T;T)
Reference	Rs869312980(A;A)
Significance	Pathogenic
Disease	Osteochondrodysplasia
Variation	info
Gene	TAPT1
CLNDBN	Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type
Reversed	1
HGVS	NC_000004.11:g.16177791T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210534.1,