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rs28938169

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28938169(C;T)
Make rs28938169(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position13298236
GenePHYH
is asnp
is mentioned by
dbSNPrs28938169
ebirs28938169
HLIrs28938169
Exacrs28938169
Varsomers28938169
Maprs28938169
PheGenIrs28938169
hapmaprs28938169
1000 genomesrs28938169
hgdprs28938169
ensemblrs28938169
gopubmedrs28938169
geneviewrs28938169
scholarrs28938169
googlers28938169
pharmgkbrs28938169
gwascentralrs28938169
openSNPrs28938169
23andMers28938169
23andMe allrs28938169
SNP Nexus

SNPshotrs28938169
SNPdbers28938169
MSV3drs28938169
GWAS Ctlgrs28938169
GMAF0.107
Max Magnitude0
OMIM602026
DescREFSUM DISEASE
Variant0006
Relatedalso
ClinVar
Risk rs28938169(T;T)
Alt rs28938169(T;T)
Reference rs28938169(C;C)
Significance Other
Disease not provided not specified
Variation info
Gene PHYH
CLNDBN not provided not specified
Reversed 1
HGVS NC_000010.10:g.13340236G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008020.3, RCV000117911.3,


GET Evidence
PHYH-P29S
aa_change Pro29Ser
aa_change_short P29S
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.155326
summary Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.