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rs141925556

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs141925556(C;T)
Make rs141925556(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48528275
GeneEBP
is asnp
is mentioned by
dbSNPrs141925556
ebirs141925556
HLIrs141925556
Exacrs141925556
Varsomers141925556
Maprs141925556
PheGenIrs141925556
hapmaprs141925556
1000 genomesrs141925556
hgdprs141925556
ensemblrs141925556
gopubmedrs141925556
geneviewrs141925556
scholarrs141925556
googlers141925556
pharmgkbrs141925556
gwascentralrs141925556
openSNPrs141925556
23andMers141925556
23andMe allrs141925556
SNP Nexus

SNPshotrs141925556
SNPdbers141925556
MSV3drs141925556
GWAS Ctlgrs141925556
Max Magnitude0
ClinVar
Risk rs141925556(T;T)
Alt rs141925556(T;T)
Reference rs141925556(C;C)
Significance Probable-Pathogenic
Disease Chondrodysplasia punctata 2 X-linked dominant not provided
Variation info
Gene EBP
CLNDBN Chondrodysplasia punctata 2 X-linked dominant not provided
Reversed 0
HGVS NC_000023.10:g.48386663C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000145943.1, RCV000171436.1,