Have questions? Visit https://www.reddit.com/r/SNPedia

rs786205904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205904(C;C)
Make rs786205904(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position180806529
GeneXPR1
is asnp
is mentioned by
dbSNPrs786205904
dbSNP (classic)rs786205904
ClinGenrs786205904
ebirs786205904
HLIrs786205904
Exacrs786205904
Gnomadrs786205904
Varsomers786205904
LitVarrs786205904
Maprs786205904
PheGenIrs786205904
Biobankrs786205904
1000 genomesrs786205904
hgdprs786205904
ensemblrs786205904
geneviewrs786205904
scholarrs786205904
googlers786205904
pharmgkbrs786205904
gwascentralrs786205904
openSNPrs786205904
23andMers786205904
SNPshotrs786205904
SNPdbers786205904
MSV3drs786205904
GWAS Ctlgrs786205904
Max Magnitude0
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,