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rs104893624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893624(C;T)
Make rs104893624(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position136114928
GeneCXCR4
is asnp
is mentioned by
dbSNPrs104893624
dbSNP (classic)rs104893624
ClinGenrs104893624
ebirs104893624
HLIrs104893624
Exacrs104893624
Gnomadrs104893624
Varsomers104893624
LitVarrs104893624
Maprs104893624
PheGenIrs104893624
Biobankrs104893624
1000 genomesrs104893624
hgdprs104893624
ensemblrs104893624
geneviewrs104893624
scholarrs104893624
googlers104893624
pharmgkbrs104893624
gwascentralrs104893624
openSNPrs104893624
23andMers104893624
SNPshotrs104893624
SNPdbers104893624
MSV3drs104893624
GWAS Ctlgrs104893624
Max Magnitude0
OMIM162643
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893624(T;T)
Alt rs104893624(T;T)
Reference Rs104893624(C;C)
Significance Pathogenic
Disease Warts Myelokathexis
Variation info
Gene CXCR4
CLNDBN Warts, hypogammaglobulinemia, infections, and myelokathexis Myelokathexis, isolated
Reversed 1
HGVS NC_000002.11:g.136872498G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015063.22, RCV000015064.26,