rs397515632

Orientation

minus

Stabilized

minus

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

Make rs397515632(C;C)

Make rs397515632(C;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

39231722

Gene

PDGFB

is a	snp
is	mentioned by
dbSNP	rs397515632
dbSNP (classic)	rs397515632
ClinGen	rs397515632
ebi	rs397515632
HLI	rs397515632
Exac	rs397515632
Gnomad	rs397515632
Varsome	rs397515632
LitVar	rs397515632
Map	rs397515632
PheGenI	rs397515632
Biobank	rs397515632
1000 genomes	rs397515632
hgdp	rs397515632
ensembl	rs397515632
geneview	rs397515632
scholar	rs397515632
google	rs397515632
pharmgkb	rs397515632
gwascentral	rs397515632
openSNP	rs397515632
23andMe	rs397515632
SNPshot	rs397515632
SNPdbe	rs397515632
MSV3d	rs397515632
GWAS Ctlg	rs397515632

Max Magnitude

0

ClinVar
Risk	rs397515632(C;C)
Alt	rs397515632(C;C)
Reference	Rs397515632(T;T)
Significance	Pathogenic
Disease	Idiopathic basal ganglia calcification 5
Variation	info
Gene	PDGFB
CLNDBN	Idiopathic basal ganglia calcification 5
Reversed	1
HGVS	NC_000022.10:g.39627727A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000066214.23,