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rs128621200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs128621200(C;C)
Make rs128621200(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101356102
GeneBTK
is asnp
is mentioned by
dbSNPrs128621200
ebirs128621200
HLIrs128621200
Exacrs128621200
Varsomers128621200
Maprs128621200
PheGenIrs128621200
hapmaprs128621200
1000 genomesrs128621200
hgdprs128621200
ensemblrs128621200
gopubmedrs128621200
geneviewrs128621200
scholarrs128621200
googlers128621200
pharmgkbrs128621200
gwascentralrs128621200
openSNPrs128621200
23andMers128621200
23andMe allrs128621200
SNP Nexus

SNPshotrs128621200
SNPdbers128621200
MSV3drs128621200
GWAS Ctlgrs128621200
Max Magnitude0
OMIM300300
Desc
Variant0035
Relatedalso
ClinVar
Risk rs128621200(C;C)
Alt rs128621200(C;C)
Reference rs128621200(T;T)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100611090A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012129.17,