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rs128621197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs128621197(G;G)
Make rs128621197(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101357561
GeneBTK
is asnp
is mentioned by
dbSNPrs128621197
ebirs128621197
HLIrs128621197
Exacrs128621197
Varsomers128621197
Maprs128621197
PheGenIrs128621197
hapmaprs128621197
1000 genomesrs128621197
hgdprs128621197
ensemblrs128621197
gopubmedrs128621197
geneviewrs128621197
scholarrs128621197
googlers128621197
pharmgkbrs128621197
gwascentralrs128621197
openSNPrs128621197
23andMers128621197
23andMe allrs128621197
SNP Nexus

SNPshotrs128621197
SNPdbers128621197
MSV3drs128621197
GWAS Ctlgrs128621197
Max Magnitude0
OMIM300300
Desc
Variant0030
Relatedalso
ClinVar
Risk rs128621197(G;G)
Alt rs128621197(G;G)
Reference rs128621197(T;T)
Significance Pathogenic
Disease X-linked agammaglobulinemia with growth hormone deficiency
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia with growth hormone deficiency
Reversed 1
HGVS NC_000023.10:g.100612549A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012124.2,