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rs104894391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894391(C;T)
Make rs104894391(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position77903356
GeneEDNRB, SLFN14
is asnp
is mentioned by
dbSNPrs104894391
ebirs104894391
HLIrs104894391
Exacrs104894391
Varsomers104894391
Maprs104894391
PheGenIrs104894391
hapmaprs104894391
1000 genomesrs104894391
hgdprs104894391
ensemblrs104894391
gopubmedrs104894391
geneviewrs104894391
scholarrs104894391
googlers104894391
pharmgkbrs104894391
gwascentralrs104894391
openSNPrs104894391
23andMers104894391
23andMe allrs104894391
SNP Nexus

SNPshotrs104894391
SNPdbers104894391
MSV3drs104894391
GWAS Ctlgrs104894391
Max Magnitude0
OMIM131244
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894391(T;T)
Alt rs104894391(T;T)
Reference rs104894391(C;C)
Significance Pathogenic
Disease ABCD syndrome
Variation info
Gene EDNRB EDNRB-AS1
CLNDBN ABCD syndrome
Reversed 1
HGVS NC_000013.10:g.78477491G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018120.27,