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rs730880319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAAGTGGTACGCA;CAAGTGGTACGCA) 0 common in clinvar
Make rs730880319(-;-)
Make rs730880319(-;AAGTGGTACGCAC)
Make rs730880319(AAGTGGTACGCAC;AAGTGGTACGCAC)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position97737784
GeneZAP70
is asnp
is mentioned by
dbSNPrs730880319
dbSNP (old)rs730880319
ClinGenrs730880319
ebirs730880319
HLIrs730880319
Exacrs730880319
Gnomadrs730880319
Varsomers730880319
Maprs730880319
PheGenIrs730880319
Biobankrs730880319
1000 genomesrs730880319
hgdprs730880319
ensemblrs730880319
gopubmedrs730880319
geneviewrs730880319
scholarrs730880319
googlers730880319
pharmgkbrs730880319
gwascentralrs730880319
openSNPrs730880319
23andMers730880319
23andMe allrs730880319
SNP Nexus

SNPshotrs730880319
SNPdbers730880319
MSV3drs730880319
GWAS Ctlgrs730880319
Max Magnitude0
ClinVar
Risk rs730880319(-;-)
Alt rs730880319(-;-)
Reference Rs730880319(CAAGTGGTACGCA;CAAGTGGTACGCA)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene ZAP70
CLNDBN Severe combined immunodeficiency, atypical
Reversed 0
HGVS NC_000002.11:g.98354247_98354259delAAGTGGTACGCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000014164.27,