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rs128621202

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs128621202(A;A)
Make rs128621202(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101356059
GeneBTK
is asnp
is mentioned by
dbSNPrs128621202
ebirs128621202
HLIrs128621202
Exacrs128621202
Varsomers128621202
Maprs128621202
PheGenIrs128621202
hapmaprs128621202
1000 genomesrs128621202
hgdprs128621202
ensemblrs128621202
gopubmedrs128621202
geneviewrs128621202
scholarrs128621202
googlers128621202
pharmgkbrs128621202
gwascentralrs128621202
openSNPrs128621202
23andMers128621202
23andMe allrs128621202
SNP Nexus

SNPshotrs128621202
SNPdbers128621202
MSV3drs128621202
GWAS Ctlgrs128621202
Max Magnitude0
OMIM300300
Desc
Variant0037
Relatedalso
ClinVar
Risk rs128621202(A;A)
Alt rs128621202(A;A)
Reference rs128621202(G;G)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100611047C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012131.11,