Rs104894178

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894178(C;T)
Make rs104894178(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position13283695
GenePHYH
is asnp
is mentioned by
dbSNPrs104894178
Exacrs104894178
PheGenIrs104894178
nextbiors104894178
hapmaprs104894178
1000 genomesrs104894178
hgdprs104894178
ensemblrs104894178
gopubmedrs104894178
geneviewrs104894178
scholarrs104894178
googlers104894178
pharmgkbrs104894178
gwascentralrs104894178
openSNPrs104894178
23andMers104894178
23andMe allrs104894178
SNP Nexus

SNPshotrs104894178
SNPdbers104894178
MSV3drs104894178
Merged fromRs28939671
Max Magnitude0
OMIM602026
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894178(T;T)
Alt rs104894178(T;T)
Reference rs104894178(C;C)
Significance Pathogenic
Disease Refsum disease
Variation info
Gene PHYH
CLNDBN Refsum disease, adult, 1
Reversed 1
HGVS NC_000010.10:g.13325695G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008018.1,