rs121908408

Orientation

minus

Stabilized

minus

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

Make rs121908408(-;-)

Make rs121908408(-;GAG)

Reference

GRCh38 38.1/141

Chromosome

5

Position

14711206

Gene	ANKH, LOC100130744, OTULIN

is a	snp
is	mentioned by
dbSNP	rs121908408
dbSNP (classic)	rs121908408
ClinGen	rs121908408
ebi	rs121908408
HLI	rs121908408
Exac	rs121908408
Gnomad	rs121908408
Varsome	rs121908408
LitVar	rs121908408
Map	rs121908408
PheGenI	rs121908408
Biobank	rs121908408
1000 genomes	rs121908408
hgdp	rs121908408
ensembl	rs121908408
geneview	rs121908408
scholar	rs121908408
google	rs121908408
pharmgkb	rs121908408
gwascentral	rs121908408
openSNP	rs121908408
23andMe	rs121908408
SNPshot	rs121908408
SNPdbe	rs121908408
MSV3d	rs121908408
GWAS Ctlg	rs121908408

Max Magnitude

0

OMIM	605145
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908408(-;-)
Alt	rs121908408(-;-)
Reference	Rs121908408(GAG;GAG)
Significance	Pathogenic
Disease	Chondrocalcinosis 2
Variation	info
Gene	ANKH LOC100130744
CLNDBN	Chondrocalcinosis 2, sporadic
Reversed	1
HGVS	NC_000005.9:g.14711315_14711317delCTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005507.2,