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rs786205903

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205903(C;C)
Make rs786205903(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position180803583
GeneXPR1
is asnp
is mentioned by
dbSNPrs786205903
dbSNP (classic)rs786205903
ClinGenrs786205903
ebirs786205903
HLIrs786205903
Exacrs786205903
Gnomadrs786205903
Varsomers786205903
LitVarrs786205903
Maprs786205903
PheGenIrs786205903
Biobankrs786205903
1000 genomesrs786205903
hgdprs786205903
ensemblrs786205903
geneviewrs786205903
scholarrs786205903
googlers786205903
pharmgkbrs786205903
gwascentralrs786205903
openSNPrs786205903
23andMers786205903
SNPshotrs786205903
SNPdbers786205903
MSV3drs786205903
GWAS Ctlgrs786205903
Max Magnitude0
ClinVar
Risk rs786205903(C;C)
Alt rs786205903(C;C)
Reference Rs786205903(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.180772719T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000172881.2,