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rs878853173

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853173(A;T)
Make rs878853173(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position4782744
GeneITPR1
is asnp
is mentioned by
dbSNPrs878853173
ebirs878853173
HLIrs878853173
Exacrs878853173
Varsomers878853173
Maprs878853173
PheGenIrs878853173
hapmaprs878853173
1000 genomesrs878853173
hgdprs878853173
ensemblrs878853173
gopubmedrs878853173
geneviewrs878853173
scholarrs878853173
googlers878853173
pharmgkbrs878853173
gwascentralrs878853173
openSNPrs878853173
23andMers878853173
23andMe allrs878853173
SNP Nexus

SNPshotrs878853173
SNPdbers878853173
MSV3drs878853173
GWAS Ctlgrs878853173
Max Magnitude0
ClinVar
Risk rs878853173(T;T)
Alt rs878853173(T;T)
Reference rs878853173(A;A)
Significance Pathogenic
Disease Gillespie syndrome
Variation info
Gene ITPR1
CLNDBN Gillespie syndrome
Reversed 0
HGVS NC_000003.11:g.4824428A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000224998.2,