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rs786205901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205901(C;C)
Make rs786205901(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position180803598
GeneXPR1
is asnp
is mentioned by
dbSNPrs786205901
dbSNP (classic)rs786205901
ClinGenrs786205901
ebirs786205901
HLIrs786205901
Exacrs786205901
Gnomadrs786205901
Varsomers786205901
LitVarrs786205901
Maprs786205901
PheGenIrs786205901
Biobankrs786205901
1000 genomesrs786205901
hgdprs786205901
ensemblrs786205901
geneviewrs786205901
scholarrs786205901
googlers786205901
pharmgkbrs786205901
gwascentralrs786205901
openSNPrs786205901
23andMers786205901
SNPshotrs786205901
SNPdbers786205901
MSV3drs786205901
GWAS Ctlgrs786205901
Max Magnitude0
ClinVar
Risk rs786205901(C;C)
Alt rs786205901(C;C)
Reference Rs786205901(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.180772734T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000172879.2,