rs397514487

Orientation

minus

Stabilized

minus

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

Make rs397514487(C;T)

Make rs397514487(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

52149850

Gene

POC1A

is a	snp
is	mentioned by
dbSNP	rs397514487
dbSNP (classic)	rs397514487
ClinGen	rs397514487
ebi	rs397514487
HLI	rs397514487
Exac	rs397514487
Gnomad	rs397514487
Varsome	rs397514487
LitVar	rs397514487
Map	rs397514487
PheGenI	rs397514487
Biobank	rs397514487
1000 genomes	rs397514487
hgdp	rs397514487
ensembl	rs397514487
geneview	rs397514487
scholar	rs397514487
google	rs397514487
pharmgkb	rs397514487
gwascentral	rs397514487
openSNP	rs397514487
23andMe	rs397514487
SNPshot	rs397514487
SNPdbe	rs397514487
MSV3d	rs397514487
GWAS Ctlg	rs397514487

Max Magnitude

0

ClinVar
Risk	rs397514487(T;T)
Alt	rs397514487(T;T)
Reference	Rs397514487(C;C)
Significance	Pathogenic
Disease	Short stature Primordial dwarfism
Variation	info
Gene	POC1A
CLNDBN	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Primordial dwarfism
Reversed	1
HGVS	NC_000003.11:g.52183866G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030716.2, RCV000162166.1,