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rs397514260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514260(C;G)
Make rs397514260(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position157248980
GeneITK
is asnp
is mentioned by
dbSNPrs397514260
ebirs397514260
HLIrs397514260
Exacrs397514260
Varsomers397514260
Maprs397514260
PheGenIrs397514260
hapmaprs397514260
1000 genomesrs397514260
hgdprs397514260
ensemblrs397514260
gopubmedrs397514260
geneviewrs397514260
scholarrs397514260
googlers397514260
pharmgkbrs397514260
gwascentralrs397514260
openSNPrs397514260
23andMers397514260
23andMe allrs397514260
SNP Nexus

SNPshotrs397514260
SNPdbers397514260
MSV3drs397514260
GWAS Ctlgrs397514260
Max Magnitude0
ClinVar
Risk rs397514260(G;G)
Alt rs397514260(G;G)
Reference rs397514260(C;C)
Significance Pathogenic
Disease Lymphoproliferative syndrome 1
Variation info
Gene ITK
CLNDBN Lymphoproliferative syndrome 1
Reversed 0
HGVS NC_000005.9:g.156675990C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054557.22,