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rs128621191

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs128621191(G;T)
Make rs128621191(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101360626
GeneBTK
is asnp
is mentioned by
dbSNPrs128621191
ebirs128621191
HLIrs128621191
Exacrs128621191
Varsomers128621191
Maprs128621191
PheGenIrs128621191
hapmaprs128621191
1000 genomesrs128621191
hgdprs128621191
ensemblrs128621191
gopubmedrs128621191
geneviewrs128621191
scholarrs128621191
googlers128621191
pharmgkbrs128621191
gwascentralrs128621191
openSNPrs128621191
23andMers128621191
23andMe allrs128621191
SNP Nexus

SNPshotrs128621191
SNPdbers128621191
MSV3drs128621191
GWAS Ctlgrs128621191
Max Magnitude0
OMIM300300
Desc
Variant0020
Relatedalso
ClinVar
Risk rs128621191(T;T)
Alt rs128621191(T;T)
Reference rs128621191(G;G)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100615614C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012114.2,