Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060505034

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060505034(A;A)
Make rs1060505034(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position82276483
GeneRPS23
is asnp
is mentioned by
dbSNPrs1060505034
dbSNP (classic)rs1060505034
ClinGenrs1060505034
ebirs1060505034
HLIrs1060505034
Exacrs1060505034
Gnomadrs1060505034
Varsomers1060505034
LitVarrs1060505034
Maprs1060505034
PheGenIrs1060505034
Biobankrs1060505034
1000 genomesrs1060505034
hgdprs1060505034
ensemblrs1060505034
geneviewrs1060505034
scholarrs1060505034
googlers1060505034
pharmgkbrs1060505034
gwascentralrs1060505034
openSNPrs1060505034
23andMers1060505034
23andMe allrs1060505034
SNPshotrs1060505034
SNPdbers1060505034
MSV3drs1060505034
GWAS Ctlgrs1060505034
Max Magnitude0
ClinVar
Risk rs1060505034(A;A)
Alt rs1060505034(A;A)
Reference Rs1060505034(G;G)
Significance Pathogenic
Disease MacInnes syndrome
Variation info
Gene RPS23
CLNDBN MacInnes syndrome
Reversed 1
HGVS NC_000005.9:g.81572302C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000477681.1,