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rs128621206

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs128621206(A;G)
Make rs128621206(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101353336
GeneBTK
is asnp
is mentioned by
dbSNPrs128621206
ebirs128621206
HLIrs128621206
Exacrs128621206
Varsomers128621206
Maprs128621206
PheGenIrs128621206
hapmaprs128621206
1000 genomesrs128621206
hgdprs128621206
ensemblrs128621206
gopubmedrs128621206
geneviewrs128621206
scholarrs128621206
googlers128621206
pharmgkbrs128621206
gwascentralrs128621206
openSNPrs128621206
23andMers128621206
23andMe allrs128621206
SNP Nexus

SNPshotrs128621206
SNPdbers128621206
MSV3drs128621206
GWAS Ctlgrs128621206
Max Magnitude0
OMIM300300
Desc
Variant0044
Relatedalso
ClinVar
Risk rs128621206(G;G)
Alt rs128621206(G;G)
Reference rs128621206(A;A)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100608324T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012138.2,