Rs104894173

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894173(A;A)
Make rs104894173(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position13288428
GenePHYH
is asnp
is mentioned by
dbSNPrs104894173
Exacrs104894173
PheGenIrs104894173
nextbiors104894173
hapmaprs104894173
1000 genomesrs104894173
hgdprs104894173
ensemblrs104894173
gopubmedrs104894173
geneviewrs104894173
scholarrs104894173
googlers104894173
pharmgkbrs104894173
gwascentralrs104894173
openSNPrs104894173
23andMers104894173
23andMe allrs104894173
SNP Nexus

SNPshotrs104894173
SNPdbers104894173
MSV3drs104894173
Merged fromRs28939673
OMIM602026
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894173(A;A)
Alt rs104894173(A;A)
Reference rs104894173(G;G)
Significance Pathogenic
Disease Refsum disease
Variation info
Gene PHYH
CLNDBN Refsum disease, adult, 1
Reversed 1
HGVS NC_000010.10:g.13330428C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008025.1,