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rs128621199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128621199(A;A)
Make rs128621199(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101356858
GeneBTK
is asnp
is mentioned by
dbSNPrs128621199
ebirs128621199
HLIrs128621199
Exacrs128621199
Varsomers128621199
Maprs128621199
PheGenIrs128621199
hapmaprs128621199
1000 genomesrs128621199
hgdprs128621199
ensemblrs128621199
gopubmedrs128621199
geneviewrs128621199
scholarrs128621199
googlers128621199
pharmgkbrs128621199
gwascentralrs128621199
openSNPrs128621199
23andMers128621199
23andMe allrs128621199
SNP Nexus

SNPshotrs128621199
SNPdbers128621199
MSV3drs128621199
GWAS Ctlgrs128621199
Max Magnitude0
OMIM300300
Desc
Variant0033
Relatedalso
ClinVar
Risk rs128621199(A,T;A,T)
Alt rs128621199(A,T;A,T)
Reference rs128621199(C;C)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100611846G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012127.17,