rs397509382

Orientation

minus

Stabilized

minus

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

Make rs397509382(C;T)

Make rs397509382(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

150117796

Gene

PDGFRB

is a	snp
is	mentioned by
dbSNP	rs397509382
dbSNP (classic)	rs397509382
ClinGen	rs397509382
ebi	rs397509382
HLI	rs397509382
Exac	rs397509382
Gnomad	rs397509382
Varsome	rs397509382
LitVar	rs397509382
Map	rs397509382
PheGenI	rs397509382
Biobank	rs397509382
1000 genomes	rs397509382
hgdp	rs397509382
ensembl	rs397509382
geneview	rs397509382
scholar	rs397509382
google	rs397509382
pharmgkb	rs397509382
gwascentral	rs397509382
openSNP	rs397509382
23andMe	rs397509382
SNPshot	rs397509382
SNPdbe	rs397509382
MSV3d	rs397509382
GWAS Ctlg	rs397509382

Max Magnitude

0

ClinVar
Risk	rs397509382(T;T)
Alt	rs397509382(T;T)
Reference	Rs397509382(C;C)
Significance	Pathogenic
Disease	Basal ganglia calcification
Variation	info
Gene	PDGFRB
CLNDBN	Basal ganglia calcification, idiopathic, 4
Reversed	1
HGVS	NC_000005.9:g.149497359G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032789.27,