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rs2293869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2293869(A;T)
Make rs2293869(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position54626835
GeneRP1
is asnp
is mentioned by
dbSNPrs2293869
ebirs2293869
HLIrs2293869
Exacrs2293869
Varsomers2293869
Maprs2293869
PheGenIrs2293869
hapmaprs2293869
1000 genomesrs2293869
hgdprs2293869
ensemblrs2293869
gopubmedrs2293869
geneviewrs2293869
scholarrs2293869
googlers2293869
pharmgkbrs2293869
gwascentralrs2293869
openSNPrs2293869
23andMers2293869
23andMe allrs2293869
SNP Nexus

SNPshotrs2293869
SNPdbers2293869
MSV3drs2293869
GWAS Ctlgrs2293869
GMAF0.2608
Max Magnitude0
? (A;A) (A;T) (T;T) 28
OMIM603937
DescHYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
Variant0005
Relatedalso
Neighborrs444772
Distance338


ClinVar
Risk rs2293869(T;T)
Alt rs2293869(T;T)
Reference rs2293869(A;A)
Significance Non-pathogenic
Disease Hypertriglyceridemia not specified
Variation info
Gene RP1
CLNDBN Hypertriglyceridemia, susceptibility to not specified
Reversed 0
HGVS NC_000008.10:g.55539395A>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000006333.3, RCV000081369.4,



[PMID 20664799OA-icon.png] Differential pattern of RP1 mutations in retinitis pigmentosa.


GET Evidence
RP1-N985Y
aa_change Asn985Tyr
aa_change_short N985Y
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.348671
summary Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.