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rs201578674

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201578674(C;C)
Make rs201578674(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position13295608
GenePHYH
is asnp
is mentioned by
dbSNPrs201578674
ebirs201578674
HLIrs201578674
Exacrs201578674
Varsomers201578674
Maprs201578674
PheGenIrs201578674
hapmaprs201578674
1000 genomesrs201578674
hgdprs201578674
ensemblrs201578674
gopubmedrs201578674
geneviewrs201578674
scholarrs201578674
googlers201578674
pharmgkbrs201578674
gwascentralrs201578674
openSNPrs201578674
23andMers201578674
23andMe allrs201578674
SNP Nexus

SNPshotrs201578674
SNPdbers201578674
MSV3drs201578674
GWAS Ctlgrs201578674
Max Magnitude0
ClinVar
Risk rs201578674(C;C)
Alt rs201578674(C;C)
Reference rs201578674(T;T)
Significance Pathogenic
Disease Refsum disease
Variation info
Gene PHYH
CLNDBN Refsum disease, adult, 1
Reversed 0
HGVS NC_000010.10:g.13337608T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008019.4,