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rs878853172

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853172(C;T)
Make rs878853172(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position4670904
GeneITPR1
is asnp
is mentioned by
dbSNPrs878853172
ebirs878853172
HLIrs878853172
Exacrs878853172
Varsomers878853172
Maprs878853172
PheGenIrs878853172
hapmaprs878853172
1000 genomesrs878853172
hgdprs878853172
ensemblrs878853172
gopubmedrs878853172
geneviewrs878853172
scholarrs878853172
googlers878853172
pharmgkbrs878853172
gwascentralrs878853172
openSNPrs878853172
23andMers878853172
23andMe allrs878853172
SNP Nexus

SNPshotrs878853172
SNPdbers878853172
MSV3drs878853172
GWAS Ctlgrs878853172
Max Magnitude0
ClinVar
Risk rs878853172(T;T)
Alt rs878853172(T;T)
Reference rs878853172(C;C)
Significance Pathogenic
Disease Gillespie syndrome
Variation info
Gene ITPR1
CLNDBN Gillespie syndrome
Reversed 0
HGVS NC_000003.11:g.4712588C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000224993.2,