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rs878853177

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853177(A;G)
Make rs878853177(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position4779584
GeneITPR1
is asnp
is mentioned by
dbSNPrs878853177
dbSNP (classic)rs878853177
ClinGenrs878853177
ebirs878853177
HLIrs878853177
Exacrs878853177
Gnomadrs878853177
Varsomers878853177
LitVarrs878853177
Maprs878853177
PheGenIrs878853177
Biobankrs878853177
1000 genomesrs878853177
hgdprs878853177
ensemblrs878853177
geneviewrs878853177
scholarrs878853177
googlers878853177
pharmgkbrs878853177
gwascentralrs878853177
openSNPrs878853177
23andMers878853177
SNPshotrs878853177
SNPdbers878853177
MSV3drs878853177
GWAS Ctlgrs878853177
Max Magnitude0
ClinVar
Risk rs878853177(G;G)
Alt rs878853177(G;G)
Reference Rs878853177(A;A)
Significance Pathogenic
Disease Gillespie syndrome
Variation info
Gene ITPR1
CLNDBN Gillespie syndrome
Reversed 0
HGVS NC_000003.11:g.4821268A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000224992.2,