rs786205904

Orientation

plus

Stabilized

plus

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

Make rs786205904(C;C)

Make rs786205904(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

180806529

Gene

XPR1

is a	snp
is	mentioned by
dbSNP	rs786205904
dbSNP (classic)	rs786205904
ClinGen	rs786205904
ebi	rs786205904
HLI	rs786205904
Exac	rs786205904
Gnomad	rs786205904
Varsome	rs786205904
LitVar	rs786205904
Map	rs786205904
PheGenI	rs786205904
Biobank	rs786205904
1000 genomes	rs786205904
hgdp	rs786205904
ensembl	rs786205904
geneview	rs786205904
scholar	rs786205904
google	rs786205904
pharmgkb	rs786205904
gwascentral	rs786205904
openSNP	rs786205904
23andMe	rs786205904
SNPshot	rs786205904
SNPdbe	rs786205904
MSV3d	rs786205904
GWAS Ctlg	rs786205904

Max Magnitude

0

ClinVar
Risk	rs786205904(C;C)
Alt	rs786205904(C;C)
Reference	Rs786205904(T;T)
Significance	Pathogenic
Disease	Basal ganglia calcification
Variation	info
Gene	XPR1
CLNDBN	Basal ganglia calcification, idiopathic, 6
Reversed	0
HGVS	NC_000001.10:g.180775665T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000172882.2,