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rs137853201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853201(A;A)
Make rs137853201(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position97737577
GeneZAP70
is asnp
is mentioned by
dbSNPrs137853201
dbSNP (classic)rs137853201
ClinGenrs137853201
ebirs137853201
HLIrs137853201
Exacrs137853201
Gnomadrs137853201
Varsomers137853201
LitVarrs137853201
Maprs137853201
PheGenIrs137853201
Biobankrs137853201
1000 genomesrs137853201
hgdprs137853201
ensemblrs137853201
geneviewrs137853201
scholarrs137853201
googlers137853201
pharmgkbrs137853201
gwascentralrs137853201
openSNPrs137853201
23andMers137853201
SNPshotrs137853201
SNPdbers137853201
MSV3drs137853201
GWAS Ctlgrs137853201
Max Magnitude0
OMIM176947
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853201(A;A)
Alt rs137853201(A;A)
Reference Rs137853201(G;G)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene ZAP70
CLNDBN Severe combined immunodeficiency, atypical
Reversed 0
HGVS NC_000002.11:g.98354040G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033214.27,