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rs128621192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs128621192(A;A)
Make rs128621192(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101360589
GeneBTK
is asnp
is mentioned by
dbSNPrs128621192
ebirs128621192
HLIrs128621192
Exacrs128621192
Varsomers128621192
Maprs128621192
PheGenIrs128621192
hapmaprs128621192
1000 genomesrs128621192
hgdprs128621192
ensemblrs128621192
gopubmedrs128621192
geneviewrs128621192
scholarrs128621192
googlers128621192
pharmgkbrs128621192
gwascentralrs128621192
openSNPrs128621192
23andMers128621192
23andMe allrs128621192
SNP Nexus

SNPshotrs128621192
SNPdbers128621192
MSV3drs128621192
GWAS Ctlgrs128621192
Max Magnitude0
OMIM300300
Desc
Variant0021
Relatedalso
ClinVar
Risk rs128621192(A;A)
Alt rs128621192(A;A)
Reference rs128621192(G;G)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100615577C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012115.2,