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rs291102

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs291102(C;T)
Make rs291102(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position206933133
GenePIGR
is asnp
is mentioned by
dbSNPrs291102
ebirs291102
HLIrs291102
Exacrs291102
Varsomers291102
Maprs291102
PheGenIrs291102
hapmaprs291102
1000 genomesrs291102
hgdprs291102
ensemblrs291102
gopubmedrs291102
geneviewrs291102
scholarrs291102
googlers291102
pharmgkbrs291102
gwascentralrs291102
openSNPrs291102
23andMers291102
23andMe allrs291102
SNP Nexus

SNPshotrs291102
SNPdbers291102
MSV3drs291102
GWAS Ctlgrs291102
GMAF0.2296
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM173880
Desc
Variant0001
Relatedalso


ClinVar
Risk rs291102(T;T)
Alt rs291102(T;T)
Reference rs291102(C;C)
Significance Unknown
Disease Berger disease
Variation info
Gene PIGR
CLNDBN Berger disease
Reversed 1
HGVS NC_000001.10:g.207106478G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014481.2,



GET Evidence
PIGR-A580V
aa_change Ala580Val
aa_change_short A580V
impact pathogenic
qualified_impact Low clinical importance, Likely pathogenic
overall_frequency 0.247537
summary In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%.