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rs797045544

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045544(-;GATA)
Make rs797045544(GATA;GATA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position48527019
GeneEBP
is asnp
is mentioned by
dbSNPrs797045544
ClinGenrs797045544
ebirs797045544
HLIrs797045544
Exacrs797045544
Varsomers797045544
Maprs797045544
PheGenIrs797045544
hapmaprs797045544
1000 genomesrs797045544
hgdprs797045544
ensemblrs797045544
gopubmedrs797045544
geneviewrs797045544
scholarrs797045544
googlers797045544
pharmgkbrs797045544
gwascentralrs797045544
openSNPrs797045544
23andMers797045544
23andMe allrs797045544
SNP Nexus

SNPshotrs797045544
SNPdbers797045544
MSV3drs797045544
GWAS Ctlgrs797045544
Max Magnitude0
ClinVar
Risk rs797045544(GATA;GATA)
Alt rs797045544(GATA;GATA)
Reference Rs797045544(;)
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.48385404_48385407dupGATA
CLNSRC
CLNACC RCV000194606.1,