rs397514488

Orientation

minus

Stabilized

minus

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

Make rs397514488(C;C)

Make rs397514488(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

52147039

Gene

POC1A

is a	snp
is	mentioned by
dbSNP	rs397514488
dbSNP (classic)	rs397514488
ClinGen	rs397514488
ebi	rs397514488
HLI	rs397514488
Exac	rs397514488
Gnomad	rs397514488
Varsome	rs397514488
LitVar	rs397514488
Map	rs397514488
PheGenI	rs397514488
Biobank	rs397514488
1000 genomes	rs397514488
hgdp	rs397514488
ensembl	rs397514488
geneview	rs397514488
scholar	rs397514488
google	rs397514488
pharmgkb	rs397514488
gwascentral	rs397514488
openSNP	rs397514488
23andMe	rs397514488
SNPshot	rs397514488
SNPdbe	rs397514488
MSV3d	rs397514488
GWAS Ctlg	rs397514488

Max Magnitude

0

ClinVar
Risk	rs397514488(C;C)
Alt	rs397514488(C;C)
Reference	Rs397514488(T;T)
Significance	Pathogenic
Disease	Short stature
Variation	info
Gene	POC1A
CLNDBN	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Reversed	1
HGVS	NC_000003.11:g.52181055A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030717.2,