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rs878853174

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853174(G;T)
Make rs878853174(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position4788144
GeneITPR1
is asnp
is mentioned by
dbSNPrs878853174
ebirs878853174
HLIrs878853174
Exacrs878853174
Varsomers878853174
Maprs878853174
PheGenIrs878853174
hapmaprs878853174
1000 genomesrs878853174
hgdprs878853174
ensemblrs878853174
gopubmedrs878853174
geneviewrs878853174
scholarrs878853174
googlers878853174
pharmgkbrs878853174
gwascentralrs878853174
openSNPrs878853174
23andMers878853174
23andMe allrs878853174
SNP Nexus

SNPshotrs878853174
SNPdbers878853174
MSV3drs878853174
GWAS Ctlgrs878853174
Max Magnitude0
ClinVar
Risk rs878853174(T;T)
Alt rs878853174(T;T)
Reference rs878853174(G;G)
Significance Pathogenic
Disease Gillespie syndrome
Variation info
Gene ITPR1
CLNDBN Gillespie syndrome
Reversed 0
HGVS NC_000003.11:g.4829828G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000225000.2,