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rs878853171

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853171(C;T)
Make rs878853171(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position4706208
GeneITPR1, LOC105376932
is asnp
is mentioned by
dbSNPrs878853171
ebirs878853171
HLIrs878853171
Exacrs878853171
Varsomers878853171
Maprs878853171
PheGenIrs878853171
hapmaprs878853171
1000 genomesrs878853171
hgdprs878853171
ensemblrs878853171
gopubmedrs878853171
geneviewrs878853171
scholarrs878853171
googlers878853171
pharmgkbrs878853171
gwascentralrs878853171
openSNPrs878853171
23andMers878853171
23andMe allrs878853171
SNP Nexus

SNPshotrs878853171
SNPdbers878853171
MSV3drs878853171
GWAS Ctlgrs878853171
Max Magnitude0
ClinVar
Risk rs878853171(T;T)
Alt rs878853171(T;T)
Reference rs878853171(C;C)
Significance Pathogenic
Disease Gillespie syndrome
Variation info
Gene ITPR1
CLNDBN Gillespie syndrome
Reversed 0
HGVS NC_000003.11:g.4747892C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000224999.2,