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rs104894390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894390(C;T)
Make rs104894390(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position77903200
GeneEDNRB, SLFN14
is asnp
is mentioned by
dbSNPrs104894390
ebirs104894390
HLIrs104894390
Exacrs104894390
Varsomers104894390
Maprs104894390
PheGenIrs104894390
hapmaprs104894390
1000 genomesrs104894390
hgdprs104894390
ensemblrs104894390
gopubmedrs104894390
geneviewrs104894390
scholarrs104894390
googlers104894390
pharmgkbrs104894390
gwascentralrs104894390
openSNPrs104894390
23andMers104894390
23andMe allrs104894390
SNP Nexus

SNPshotrs104894390
SNPdbers104894390
MSV3drs104894390
GWAS Ctlgrs104894390
Max Magnitude0
OMIM131244
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894390(A,T;A,T)
Alt rs104894390(A,T;A,T)
Reference rs104894390(C;C)
Significance Pathogenic
Disease Waardenburg syndrome type 4A
Variation info
Gene EDNRB EDNRB-AS1
CLNDBN Waardenburg syndrome type 4A
Reversed 1
HGVS NC_000013.10:g.78477335G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018119.28,