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rs128620185

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs128620185(A;A)
Make rs128620185(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101375202
GeneBTK
is asnp
is mentioned by
dbSNPrs128620185
ebirs128620185
HLIrs128620185
Exacrs128620185
Varsomers128620185
Maprs128620185
PheGenIrs128620185
hapmaprs128620185
1000 genomesrs128620185
hgdprs128620185
ensemblrs128620185
gopubmedrs128620185
geneviewrs128620185
scholarrs128620185
googlers128620185
pharmgkbrs128620185
gwascentralrs128620185
openSNPrs128620185
23andMers128620185
23andMe allrs128620185
SNP Nexus

SNPshotrs128620185
SNPdbers128620185
MSV3drs128620185
GWAS Ctlgrs128620185
Max Magnitude0
OMIM300300
Desc
Variant0005
Relatedalso
ClinVar
Risk rs128620185(A;A)
Alt rs128620185(A;A)
Reference rs128620185(G;G)
Significance Pathogenic
Disease X-linked agammaglobulinemia
Variation info
Gene BTK
CLNDBN X-linked agammaglobulinemia
Reversed 1
HGVS NC_000023.10:g.100630190C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012101.17,