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rs797045546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCGCC;CCGCC) 0 common in clinvar
Make rs797045546(CCGCC;T)
Make rs797045546(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position48527239
GeneEBP
is asnp
is mentioned by
dbSNPrs797045546
dbSNP (old)rs797045546
ClinGenrs797045546
ebirs797045546
HLIrs797045546
Exacrs797045546
Gnomadrs797045546
Varsomers797045546
Maprs797045546
PheGenIrs797045546
Biobankrs797045546
1000 genomesrs797045546
hgdprs797045546
ensemblrs797045546
gopubmedrs797045546
geneviewrs797045546
scholarrs797045546
googlers797045546
pharmgkbrs797045546
gwascentralrs797045546
openSNPrs797045546
23andMers797045546
23andMe allrs797045546
SNP Nexus

SNPshotrs797045546
SNPdbers797045546
MSV3drs797045546
GWAS Ctlgrs797045546
Max Magnitude0
ClinVar
Risk rs797045546(T;T)
Alt rs797045546(T;T)
Reference Rs797045546(CCGCC;CCGCC)
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.48385627_48385631delCCGCCinsT
CLNSRC
CLNACC RCV000193635.1,