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rs797045547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045547(-;G)
Make rs797045547(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position48528248
GeneEBP
is asnp
is mentioned by
dbSNPrs797045547
dbSNP (old)rs797045547
ClinGenrs797045547
ebirs797045547
HLIrs797045547
Exacrs797045547
Gnomadrs797045547
Varsomers797045547
Maprs797045547
PheGenIrs797045547
Biobankrs797045547
1000 genomesrs797045547
hgdprs797045547
ensemblrs797045547
gopubmedrs797045547
geneviewrs797045547
scholarrs797045547
googlers797045547
pharmgkbrs797045547
gwascentralrs797045547
openSNPrs797045547
23andMers797045547
23andMe allrs797045547
SNP Nexus

SNPshotrs797045547
SNPdbers797045547
MSV3drs797045547
GWAS Ctlgrs797045547
Max Magnitude0
ClinVar
Risk rs797045547(G;G)
Alt rs797045547(G;G)
Reference Rs797045547(-;-)
Significance Pathogenic
Disease Chondrodysplasia punctata 2 X-linked dominant
Variation info
Gene EBP
CLNDBN Chondrodysplasia punctata 2 X-linked dominant
Reversed 0
HGVS NC_000023.10:g.48386636dupG
CLNSRC
CLNACC RCV000194874.1,