rs111033552

Orientation

minus

Stabilized

minus

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

Make rs111033552(C;C)

Make rs111033552(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

116120105

Gene	COL10A1, NT5DC1

is a	snp
is	mentioned by
dbSNP	rs111033552
dbSNP (classic)	rs111033552
ClinGen	rs111033552
ebi	rs111033552
HLI	rs111033552
Exac	rs111033552
Gnomad	rs111033552
Varsome	rs111033552
LitVar	rs111033552
Map	rs111033552
PheGenI	rs111033552
Biobank	rs111033552
1000 genomes	rs111033552
hgdp	rs111033552
ensembl	rs111033552
geneview	rs111033552
scholar	rs111033552
google	rs111033552
pharmgkb	rs111033552
gwascentral	rs111033552
openSNP	rs111033552
23andMe	rs111033552
23andMe all	rs111033552
SNPshot	rs111033552
SNPdbe	rs111033552
MSV3d	rs111033552
GWAS Ctlg	rs111033552

Max Magnitude

0

OMIM	120110
Desc
Variant	0014
Related	also

ClinVar
Risk	rs111033552(C;C)
Alt	rs111033552(C;C)
Reference	Rs111033552(T;T)
Significance	Pathogenic
Disease	Metaphyseal chondrodysplasia
Variation	info
Gene	NT5DC1 COL10A1
CLNDBN	Metaphyseal chondrodysplasia, Schmid type
Reversed	1
HGVS	NC_000006.11:g.116441268A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019029.27,