rs28939080

Orientation

minus

Stabilized

minus

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

Make rs28939080(A;A)

Make rs28939080(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

14713644

Gene	ANKH, LOC100130744, OTULIN

is a	snp
is	mentioned by
dbSNP	rs28939080
dbSNP (classic)	rs28939080
ClinGen	rs28939080
ebi	rs28939080
HLI	rs28939080
Exac	rs28939080
Gnomad	rs28939080
Varsome	rs28939080
LitVar	rs28939080
Map	rs28939080
PheGenI	rs28939080
Biobank	rs28939080
1000 genomes	rs28939080
hgdp	rs28939080
ensembl	rs28939080
geneview	rs28939080
scholar	rs28939080
google	rs28939080
pharmgkb	rs28939080
gwascentral	rs28939080
openSNP	rs28939080
23andMe	rs28939080
SNPshot	rs28939080
SNPdbe	rs28939080
MSV3d	rs28939080
GWAS Ctlg	rs28939080

Max Magnitude

0

OMIM	605145
Desc	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
Variant	0002
Related	also

ClinVar
Risk	rs28939080(A;A)
Alt	rs28939080(A;A)
Reference	Rs28939080(G;G)
Significance	Pathogenic
Disease	Craniometaphyseal dysplasia Chondrocalcinosis 2
Variation	info
Gene	LOC100130744 ANKH
CLNDBN	Craniometaphyseal dysplasia, autosomal dominant Chondrocalcinosis 2
Reversed	1
HGVS	NC_000005.9:g.14713753C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005502.2, RCV000032998.2,