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rs104894388

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894388(C;G)
Make rs104894388(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position77903543
GeneEDNRB, SLFN14
is asnp
is mentioned by
dbSNPrs104894388
ebirs104894388
HLIrs104894388
Exacrs104894388
Varsomers104894388
Maprs104894388
PheGenIrs104894388
hapmaprs104894388
1000 genomesrs104894388
hgdprs104894388
ensemblrs104894388
gopubmedrs104894388
geneviewrs104894388
scholarrs104894388
googlers104894388
pharmgkbrs104894388
gwascentralrs104894388
openSNPrs104894388
23andMers104894388
23andMe allrs104894388
SNP Nexus

SNPshotrs104894388
SNPdbers104894388
MSV3drs104894388
GWAS Ctlgrs104894388
Max Magnitude0
OMIM131244
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894388(G;G)
Alt rs104894388(G;G)
Reference rs104894388(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.78477678G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018114.27,