Have questions? Visit https://www.reddit.com/r/SNPedia

rs878853175

From SNPedia

Orientationplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs878853175(-;-)
Make rs878853175(-;AAG)
Make rs878853175(AAG;AAG)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position4815182
GeneITPR1
is asnp
is mentioned by
dbSNPrs878853175
ebirs878853175
HLIrs878853175
Exacrs878853175
Varsomers878853175
Maprs878853175
PheGenIrs878853175
hapmaprs878853175
1000 genomesrs878853175
hgdprs878853175
ensemblrs878853175
gopubmedrs878853175
geneviewrs878853175
scholarrs878853175
googlers878853175
pharmgkbrs878853175
gwascentralrs878853175
openSNPrs878853175
23andMers878853175
23andMe allrs878853175
SNP Nexus

SNPshotrs878853175
SNPdbers878853175
MSV3drs878853175
GWAS Ctlgrs878853175
Max Magnitude0
ClinVar
Risk rs878853175(;)
Alt rs878853175(;)
Reference rs878853175(AGA;AGA)
Significance Pathogenic
Disease Gillespie syndrome
Variation info
Gene ITPR1
CLNDBN Gillespie syndrome
Reversed 0
HGVS NC_000003.11:g.4856866_4856868delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000224994.2,