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rs730880318

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880318(A;A)
Make rs730880318(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position97737984
GeneZAP70
is asnp
is mentioned by
dbSNPrs730880318
ebirs730880318
HLIrs730880318
Exacrs730880318
Varsomers730880318
Maprs730880318
PheGenIrs730880318
hapmaprs730880318
1000 genomesrs730880318
hgdprs730880318
ensemblrs730880318
gopubmedrs730880318
geneviewrs730880318
scholarrs730880318
googlers730880318
pharmgkbrs730880318
gwascentralrs730880318
openSNPrs730880318
23andMers730880318
23andMe allrs730880318
SNP Nexus

SNPshotrs730880318
SNPdbers730880318
MSV3drs730880318
GWAS Ctlgrs730880318
Max Magnitude0
ClinVar
Risk rs730880318(A;A)
Alt rs730880318(A;A)
Reference rs730880318(G;G)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene ZAP70
CLNDBN Severe combined immunodeficiency, atypical
Reversed 0
HGVS NC_000002.11:g.98354447G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014158.28,