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rs28939672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939672(A;A)
Make rs28939672(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position13288512
GenePHYH
is asnp
is mentioned by
dbSNPrs28939672
ebirs28939672
HLIrs28939672
Exacrs28939672
Varsomers28939672
Maprs28939672
PheGenIrs28939672
hapmaprs28939672
1000 genomesrs28939672
hgdprs28939672
ensemblrs28939672
gopubmedrs28939672
geneviewrs28939672
scholarrs28939672
googlers28939672
pharmgkbrs28939672
gwascentralrs28939672
openSNPrs28939672
23andMers28939672
23andMe allrs28939672
SNP Nexus

SNPshotrs28939672
SNPdbers28939672
MSV3drs28939672
GWAS Ctlgrs28939672
Max Magnitude0
OMIM602026
DescREFSUM DISEASE
Variant0007
Relatedalso
Neighborrs28939673
Distance84


ClinVar
Risk rs28939672(A;A)
Alt rs28939672(A;A)
Reference rs28939672(C;C)
Significance Pathogenic
Disease Refsum disease
Variation info
Gene PHYH
CLNDBN Refsum disease, adult, 1
Reversed 1
HGVS NC_000010.10:g.13330512G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008024.2,