rs869320633

Orientation

minus

Stabilized

minus

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

Make rs869320633(C;C)

Make rs869320633(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

4

Position

16174730

Gene

TAPT1

is a	snp
is	mentioned by
dbSNP	rs869320633
dbSNP (classic)	rs869320633
ClinGen	rs869320633
ebi	rs869320633
HLI	rs869320633
Exac	rs869320633
Gnomad	rs869320633
Varsome	rs869320633
LitVar	rs869320633
Map	rs869320633
PheGenI	rs869320633
Biobank	rs869320633
1000 genomes	rs869320633
hgdp	rs869320633
ensembl	rs869320633
geneview	rs869320633
scholar	rs869320633
google	rs869320633
pharmgkb	rs869320633
gwascentral	rs869320633
openSNP	rs869320633
23andMe	rs869320633
SNPshot	rs869320633
SNPdbe	rs869320633
MSV3d	rs869320633
GWAS Ctlg	rs869320633

Max Magnitude

0

ClinVar
Risk	rs869320633(C;C)
Alt	rs869320633(C;C)
Reference	Rs869320633(G;G)
Significance	Pathogenic
Disease	Osteochondrodysplasia
Variation	info
Gene	TAPT1
CLNDBN	Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type
Reversed	1
HGVS	NC_000004.11:g.16176353C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210518.1,