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rs797045542

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045542(-;CTG)
Make rs797045542(CTG;CTG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position48523974
GeneEBP
is asnp
is mentioned by
dbSNPrs797045542
ClinGenrs797045542
ebirs797045542
HLIrs797045542
Exacrs797045542
Varsomers797045542
Maprs797045542
PheGenIrs797045542
hapmaprs797045542
1000 genomesrs797045542
hgdprs797045542
ensemblrs797045542
gopubmedrs797045542
geneviewrs797045542
scholarrs797045542
googlers797045542
pharmgkbrs797045542
gwascentralrs797045542
openSNPrs797045542
23andMers797045542
23andMe allrs797045542
SNP Nexus

SNPshotrs797045542
SNPdbers797045542
MSV3drs797045542
GWAS Ctlgrs797045542
Max Magnitude0
ClinVar
Risk rs797045542(TGC;TGC)
Alt rs797045542(TGC;TGC)
Reference Rs797045542(;)
Significance Probable-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.48382360_48382362dupCTG
CLNSRC
CLNACC RCV000192563.1,