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rs797045153

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045153(A;A)
Make rs797045153(A;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position48523995
GeneEBP
is asnp
is mentioned by
dbSNPrs797045153
ebirs797045153
HLIrs797045153
Exacrs797045153
Varsomers797045153
Maprs797045153
PheGenIrs797045153
hapmaprs797045153
1000 genomesrs797045153
hgdprs797045153
ensemblrs797045153
gopubmedrs797045153
geneviewrs797045153
scholarrs797045153
googlers797045153
pharmgkbrs797045153
gwascentralrs797045153
openSNPrs797045153
23andMers797045153
23andMe allrs797045153
SNP Nexus

SNPshotrs797045153
SNPdbers797045153
MSV3drs797045153
GWAS Ctlgrs797045153
Max Magnitude0
ClinVar
Risk rs797045153(A;A)
Alt rs797045153(A;A)
Reference rs797045153(T;T)
Significance Pathogenic
Disease MEND syndrome
Variation info
Gene EBP
CLNDBN MEND syndrome
Reversed 0
HGVS NC_000023.10:g.48382383T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190982.2,