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rs128621198

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs128621198(C;C)
Make rs128621198(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101356910
GeneBTK
is asnp
is mentioned by
dbSNPrs128621198
ebirs128621198
HLIrs128621198
Exacrs128621198
Varsomers128621198
Maprs128621198
PheGenIrs128621198
hapmaprs128621198
1000 genomesrs128621198
hgdprs128621198
ensemblrs128621198
gopubmedrs128621198
geneviewrs128621198
scholarrs128621198
googlers128621198
pharmgkbrs128621198
gwascentralrs128621198
openSNPrs128621198
23andMers128621198
23andMe allrs128621198
SNP Nexus

SNPshotrs128621198
SNPdbers128621198
MSV3drs128621198
GWAS Ctlgrs128621198
Max Magnitude0
OMIM300300
Desc
Variant0032
Relatedalso
ClinVar
Risk rs128621198(C;C)
Alt rs128621198(C;C)
Reference Rs128621198(T;T)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100611898A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012126.2,