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rs752281590

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs752281590(A;A)
Make rs752281590(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position4814521
GeneITPR1
is asnp
is mentioned by
dbSNPrs752281590
ebirs752281590
HLIrs752281590
Exacrs752281590
Varsomers752281590
Maprs752281590
PheGenIrs752281590
hapmaprs752281590
1000 genomesrs752281590
hgdprs752281590
ensemblrs752281590
gopubmedrs752281590
geneviewrs752281590
scholarrs752281590
googlers752281590
pharmgkbrs752281590
gwascentralrs752281590
openSNPrs752281590
23andMers752281590
23andMe allrs752281590
SNP Nexus

SNPshotrs752281590
SNPdbers752281590
MSV3drs752281590
GWAS Ctlgrs752281590
Max Magnitude0
ClinVar
Risk rs752281590(A;A)
Alt rs752281590(A;A)
Reference rs752281590(G;G)
Significance Pathogenic
Disease Gillespie syndrome
Variation info
Gene ITPR1
CLNDBN Gillespie syndrome
Reversed 0
HGVS NC_000003.11:g.4856205G>A; NC_000003.11:g.4856205G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000224995.2, RCV000224996.2,