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rs128621196

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs128621196(A;C)
Make rs128621196(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101358411
GeneBTK
is asnp
is mentioned by
dbSNPrs128621196
ebirs128621196
HLIrs128621196
Exacrs128621196
Varsomers128621196
Maprs128621196
PheGenIrs128621196
hapmaprs128621196
1000 genomesrs128621196
hgdprs128621196
ensemblrs128621196
gopubmedrs128621196
geneviewrs128621196
scholarrs128621196
googlers128621196
pharmgkbrs128621196
gwascentralrs128621196
openSNPrs128621196
23andMers128621196
23andMe allrs128621196
SNP Nexus

SNPshotrs128621196
SNPdbers128621196
MSV3drs128621196
GWAS Ctlgrs128621196
Max Magnitude0
OMIM300300
Desc
Variant0027
Relatedalso
ClinVar
Risk rs128621196(C;C)
Alt rs128621196(C;C)
Reference rs128621196(A;A)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100613399T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012121.2,