rs121434480

Orientation

minus

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

Make rs121434480(C;C)

Make rs121434480(C;G)

Reference

GRCh37 37.1/132

Chromosome

4

Position

175429850

Gene

HPGD

is a	snp
is	mentioned by
dbSNP	rs121434480
dbSNP (classic)	rs121434480
ClinGen	rs121434480
ebi	rs121434480
HLI	rs121434480
Exac	rs121434480
Gnomad	rs121434480
Varsome	rs121434480
LitVar	rs121434480
Map	rs121434480
PheGenI	rs121434480
Biobank	rs121434480
1000 genomes	rs121434480
hgdp	rs121434480
ensembl	rs121434480
geneview	rs121434480
scholar	rs121434480
google	rs121434480
pharmgkb	rs121434480
gwascentral	rs121434480
openSNP	rs121434480
23andMe	rs121434480
SNPshot	rs121434480
SNPdbe	rs121434480
MSV3d	rs121434480
GWAS Ctlg	rs121434480

Max Magnitude

0

OMIM	601688
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434480(C;C)
Alt	rs121434480(C;C)
Reference	Rs121434480(G;G)
Significance	Pathogenic
Disease	Cranioosteoarthropathy
Variation	info
Gene	HPGD
CLNDBN	Cranioosteoarthropathy
Reversed	1
HGVS	NC_000004.11:g.175429850C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008379.3,