rs111033543

Orientation

minus

Stabilized

minus

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

Make rs111033543(C;G)

Make rs111033543(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

116120232

Gene	COL10A1, NT5DC1

is a	snp
is	mentioned by
dbSNP	rs111033543
dbSNP (classic)	rs111033543
ClinGen	rs111033543
ebi	rs111033543
HLI	rs111033543
Exac	rs111033543
Gnomad	rs111033543
Varsome	rs111033543
LitVar	rs111033543
Map	rs111033543
PheGenI	rs111033543
Biobank	rs111033543
1000 genomes	rs111033543
hgdp	rs111033543
ensembl	rs111033543
geneview	rs111033543
scholar	rs111033543
google	rs111033543
pharmgkb	rs111033543
gwascentral	rs111033543
openSNP	rs111033543
23andMe	rs111033543
SNPshot	rs111033543
SNPdbe	rs111033543
MSV3d	rs111033543
GWAS Ctlg	rs111033543

Max Magnitude

0

OMIM	120110
Desc
Variant	0009
Related	also

ClinVar
Risk	rs111033543(G;G)
Alt	rs111033543(G;G)
Reference	Rs111033543(C;C)
Significance	Pathogenic
Disease	Metaphyseal chondrodysplasia
Variation	info
Gene	NT5DC1 COL10A1
CLNDBN	Metaphyseal chondrodysplasia, Schmid type
Reversed	1
HGVS	NC_000006.11:g.116441395G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019024.23,