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rs128620184

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs128620184(A;G)
Make rs128620184(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101356845
GeneBTK
is asnp
is mentioned by
dbSNPrs128620184
ebirs128620184
HLIrs128620184
Exacrs128620184
Varsomers128620184
Maprs128620184
PheGenIrs128620184
hapmaprs128620184
1000 genomesrs128620184
hgdprs128620184
ensemblrs128620184
gopubmedrs128620184
geneviewrs128620184
scholarrs128620184
googlers128620184
pharmgkbrs128620184
gwascentralrs128620184
openSNPrs128620184
23andMers128620184
23andMe allrs128620184
SNP Nexus

SNPshotrs128620184
SNPdbers128620184
MSV3drs128620184
GWAS Ctlgrs128620184
Max Magnitude0
OMIM300300
Desc
Variant0002
Relatedalso
ClinVar
Risk rs128620184(G;G)
Alt rs128620184(G;G)
Reference rs128620184(A;A)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100611833T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012096.2,