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rs128622212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs128622212(C;C)
Make rs128622212(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101349910
GeneBTK, TIMM8A
is asnp
is mentioned by
dbSNPrs128622212
ebirs128622212
HLIrs128622212
Exacrs128622212
Varsomers128622212
Maprs128622212
PheGenIrs128622212
hapmaprs128622212
1000 genomesrs128622212
hgdprs128622212
ensemblrs128622212
gopubmedrs128622212
geneviewrs128622212
scholarrs128622212
googlers128622212
pharmgkbrs128622212
gwascentralrs128622212
openSNPrs128622212
23andMers128622212
23andMe allrs128622212
SNP Nexus

SNPshotrs128622212
SNPdbers128622212
MSV3drs128622212
GWAS Ctlgrs128622212
Max Magnitude0
OMIM300300
Desc
Variant0051
Relatedalso
ClinVar
Risk rs128622212(C;C)
Alt rs128622212(C;C)
Reference rs128622212(T;T)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK TIMM8A
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100604898A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012145.11,