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rs797045543

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045543(-;T)
Make rs797045543(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position48523996
GeneEBP
is asnp
is mentioned by
dbSNPrs797045543
dbSNP (old)rs797045543
ClinGenrs797045543
ebirs797045543
HLIrs797045543
Exacrs797045543
Gnomadrs797045543
Varsomers797045543
Maprs797045543
PheGenIrs797045543
Biobankrs797045543
1000 genomesrs797045543
hgdprs797045543
ensemblrs797045543
gopubmedrs797045543
geneviewrs797045543
scholarrs797045543
googlers797045543
pharmgkbrs797045543
gwascentralrs797045543
openSNPrs797045543
23andMers797045543
23andMe allrs797045543
SNP Nexus

SNPshotrs797045543
SNPdbers797045543
MSV3drs797045543
GWAS Ctlgrs797045543
Max Magnitude0
ClinVar
Risk rs797045543(T;T)
Alt rs797045543(T;T)
Reference Rs797045543(-;-)
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.48382384dupT
CLNSRC
CLNACC RCV000193764.1,