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rs128621195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs128621195(A;G)
Make rs128621195(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101358672
GeneBTK
is asnp
is mentioned by
dbSNPrs128621195
ebirs128621195
HLIrs128621195
Exacrs128621195
Varsomers128621195
Maprs128621195
PheGenIrs128621195
hapmaprs128621195
1000 genomesrs128621195
hgdprs128621195
ensemblrs128621195
gopubmedrs128621195
geneviewrs128621195
scholarrs128621195
googlers128621195
pharmgkbrs128621195
gwascentralrs128621195
openSNPrs128621195
23andMers128621195
23andMe allrs128621195
SNP Nexus

SNPshotrs128621195
SNPdbers128621195
MSV3drs128621195
GWAS Ctlgrs128621195
Max Magnitude0
OMIM300300
Desc
Variant0026
Relatedalso
ClinVar
Risk rs128621195(G;G)
Alt rs128621195(G;G)
Reference rs128621195(A;A)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100613660T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012120.2,