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rs797045545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CATCACAGCTT;CATCACAGCTT) 0 common in clinvar
Make rs797045545(AG;AG)
Make rs797045545(AG;CATCACAGCTT)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position48527185
GeneEBP
is asnp
is mentioned by
dbSNPrs797045545
dbSNP (old)rs797045545
ClinGenrs797045545
ebirs797045545
HLIrs797045545
Exacrs797045545
Gnomadrs797045545
Varsomers797045545
Maprs797045545
PheGenIrs797045545
Biobankrs797045545
1000 genomesrs797045545
hgdprs797045545
ensemblrs797045545
gopubmedrs797045545
geneviewrs797045545
scholarrs797045545
googlers797045545
pharmgkbrs797045545
gwascentralrs797045545
openSNPrs797045545
23andMers797045545
23andMe allrs797045545
SNP Nexus

SNPshotrs797045545
SNPdbers797045545
MSV3drs797045545
GWAS Ctlgrs797045545
Max Magnitude0
ClinVar
Risk rs797045545(AG;AG)
Alt rs797045545(AG;AG)
Reference Rs797045545(CATCACAGCTT;CATCACAGCTT)
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.48385573_48385583delCATCACAGCTTinsAG
CLNSRC
CLNACC RCV000192822.1,