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rs128621203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs128621203(C;C)
Make rs128621203(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101354636
GeneBTK
is asnp
is mentioned by
dbSNPrs128621203
ebirs128621203
HLIrs128621203
Exacrs128621203
Varsomers128621203
Maprs128621203
PheGenIrs128621203
hapmaprs128621203
1000 genomesrs128621203
hgdprs128621203
ensemblrs128621203
gopubmedrs128621203
geneviewrs128621203
scholarrs128621203
googlers128621203
pharmgkbrs128621203
gwascentralrs128621203
openSNPrs128621203
23andMers128621203
23andMe allrs128621203
SNP Nexus

SNPshotrs128621203
SNPdbers128621203
MSV3drs128621203
GWAS Ctlgrs128621203
Max Magnitude0
OMIM300300
Desc
Variant0040
Relatedalso
ClinVar
Risk rs128621203(C;C)
Alt rs128621203(C;C)
Reference rs128621203(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.100609624A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012134.11,