Have questions? Visit https://www.reddit.com/r/SNPedia

rs28935174

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28935174(A;A)
Make rs28935174(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48527256
GeneEBP
is asnp
is mentioned by
dbSNPrs28935174
ebirs28935174
HLIrs28935174
Exacrs28935174
Varsomers28935174
Maprs28935174
PheGenIrs28935174
hapmaprs28935174
1000 genomesrs28935174
hgdprs28935174
ensemblrs28935174
gopubmedrs28935174
geneviewrs28935174
scholarrs28935174
googlers28935174
pharmgkbrs28935174
gwascentralrs28935174
openSNPrs28935174
23andMers28935174
23andMe allrs28935174
SNP Nexus

SNPshotrs28935174
SNPdbers28935174
MSV3drs28935174
GWAS Ctlgrs28935174
Max Magnitude0
OMIM300205
DescCHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
Variant0012
Relatedalso
? (A;G) (G;G)
ClinVar
Risk rs28935174(A;A)
Alt rs28935174(A;A)
Reference rs28935174(G;G)
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.48385644G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012247.12,