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rs128621208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128621208(A;A)
Make rs128621208(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101353282
GeneBTK
is asnp
is mentioned by
dbSNPrs128621208
ebirs128621208
HLIrs128621208
Exacrs128621208
Varsomers128621208
Maprs128621208
PheGenIrs128621208
hapmaprs128621208
1000 genomesrs128621208
hgdprs128621208
ensemblrs128621208
gopubmedrs128621208
geneviewrs128621208
scholarrs128621208
googlers128621208
pharmgkbrs128621208
gwascentralrs128621208
openSNPrs128621208
23andMers128621208
23andMe allrs128621208
SNP Nexus

SNPshotrs128621208
SNPdbers128621208
MSV3drs128621208
GWAS Ctlgrs128621208
Max Magnitude0
OMIM300300
Desc
Variant0046
Relatedalso
ClinVar
Risk rs128621208(A;A)
Alt rs128621208(A;A)
Reference rs128621208(C;C)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100608270G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012140.11,