rs397509381

Orientation

minus

Stabilized

minus

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

Make rs397509381(C;C)

Make rs397509381(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

150124300

Gene

PDGFRB

is a	snp
is	mentioned by
dbSNP	rs397509381
dbSNP (classic)	rs397509381
ClinGen	rs397509381
ebi	rs397509381
HLI	rs397509381
Exac	rs397509381
Gnomad	rs397509381
Varsome	rs397509381
LitVar	rs397509381
Map	rs397509381
PheGenI	rs397509381
Biobank	rs397509381
1000 genomes	rs397509381
hgdp	rs397509381
ensembl	rs397509381
geneview	rs397509381
scholar	rs397509381
google	rs397509381
pharmgkb	rs397509381
gwascentral	rs397509381
openSNP	rs397509381
23andMe	rs397509381
SNPshot	rs397509381
SNPdbe	rs397509381
MSV3d	rs397509381
GWAS Ctlg	rs397509381

Max Magnitude

0

ClinVar
Risk	rs397509381(C;C)
Alt	rs397509381(C;C)
Reference	Rs397509381(T;T)
Significance	Pathogenic
Disease	Basal ganglia calcification
Variation	info
Gene	PDGFRB
CLNDBN	Basal ganglia calcification, idiopathic, 4
Reversed	1
HGVS	NC_000005.9:g.149503863A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032788.26,