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rs104894795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894795(C;C)
Make rs104894795(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48523824
GeneEBP
is asnp
is mentioned by
dbSNPrs104894795
ebirs104894795
HLIrs104894795
Exacrs104894795
Varsomers104894795
Maprs104894795
PheGenIrs104894795
hapmaprs104894795
1000 genomesrs104894795
hgdprs104894795
ensemblrs104894795
gopubmedrs104894795
geneviewrs104894795
scholarrs104894795
googlers104894795
pharmgkbrs104894795
gwascentralrs104894795
openSNPrs104894795
23andMers104894795
23andMe allrs104894795
SNP Nexus

SNPshotrs104894795
SNPdbers104894795
MSV3drs104894795
GWAS Ctlgrs104894795
Max Magnitude0
OMIM300205
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894795(C;C)
Alt rs104894795(C;C)
Reference rs104894795(T;T)
Significance Pathogenic
Disease MEND syndrome
Variation info
Gene EBP
CLNDBN MEND syndrome
Reversed 0
HGVS NC_000023.10:g.48382212T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012248.13,