rs387906652

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	6.6	Idiopathic basal ganglia calcification 1
(C;T)	6.6	Idiopathic basal ganglia calcification 1

Make rs387906652(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

42417960

Gene

SLC20A2

is a	snp
is	mentioned by
dbSNP	rs387906652
dbSNP (classic)	rs387906652
ClinGen	rs387906652
ebi	rs387906652
HLI	rs387906652
Exac	rs387906652
Gnomad	rs387906652
Varsome	rs387906652
LitVar	rs387906652
Map	rs387906652
PheGenI	rs387906652
Biobank	rs387906652
1000 genomes	rs387906652
hgdp	rs387906652
ensembl	rs387906652
geneview	rs387906652
scholar	rs387906652
google	rs387906652
pharmgkb	rs387906652
gwascentral	rs387906652
openSNP	rs387906652
23andMe	rs387906652
SNPshot	rs387906652
SNPdbe	rs387906652
MSV3d	rs387906652
GWAS Ctlg	rs387906652

Max Magnitude

6.6

aka c.1802C>G (p.Ser601Trp) and also c.1802C>T (p.Ser601Leu)

see also OMIM 158378.0002 and 158378.0003

ClinVar
Risk	rs387906652(G;G) rs387906652(T;T)
Alt	rs387906652(G;G) rs387906652(T;T)
Reference	Rs387906652(C;C)
Significance	Pathogenic
Disease	Idiopathic basal ganglia calcification 1
Variation	info
Gene	SLC20A2
CLNDBN	Idiopathic basal ganglia calcification 1
Reversed	1
HGVS	NC_000008.10:g.42275478G>A; NC_000008.10:g.42275478G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000172921.2, RCV000172920.3,