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rs730882058

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882058(-;-)
Make rs730882058(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position13295577
GenePHYH
is asnp
is mentioned by
dbSNPrs730882058
ebirs730882058
HLIrs730882058
Exacrs730882058
Varsomers730882058
Maprs730882058
PheGenIrs730882058
hapmaprs730882058
1000 genomesrs730882058
hgdprs730882058
ensemblrs730882058
gopubmedrs730882058
geneviewrs730882058
scholarrs730882058
googlers730882058
pharmgkbrs730882058
gwascentralrs730882058
openSNPrs730882058
23andMers730882058
23andMe allrs730882058
SNP Nexus

SNPshotrs730882058
SNPdbers730882058
MSV3drs730882058
GWAS Ctlgrs730882058
Max Magnitude0
ClinVar
Risk rs730882058(;)
Alt rs730882058(;)
Reference rs730882058(T;T)
Significance Pathogenic
Disease Refsum disease
Variation info
Gene PHYH
CLNDBN Refsum disease, adult, 1
Reversed 1
HGVS NC_000010.10:g.13337577delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000008021.3,