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rs1085307119

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome17
Position42998748
GeneRPL27
is asnp
is mentioned by
dbSNPrs1085307119
dbSNP (old)rs1085307119
ClinGenrs1085307119
ebirs1085307119
HLIrs1085307119
Exacrs1085307119
Gnomadrs1085307119
Varsomers1085307119
Maprs1085307119
PheGenIrs1085307119
Biobankrs1085307119
1000 genomesrs1085307119
hgdprs1085307119
ensemblrs1085307119
gopubmedrs1085307119
geneviewrs1085307119
scholarrs1085307119
googlers1085307119
pharmgkbrs1085307119
gwascentralrs1085307119
openSNPrs1085307119
23andMers1085307119
23andMe allrs1085307119
SNPshotrs1085307119
SNPdbers1085307119
MSV3drs1085307119
GWAS Ctlgrs1085307119
Max Magnitude0
ClinVar
Risk rs1085307119(A;A)
Alt rs1085307119(A;A)
Reference Rs1085307119(G;G)
Significance Pathogenic
Disease Diamond-Blackfan anemia 16
Variation info
Gene RPL27
CLNDBN Diamond-Blackfan anemia 16
Reversed 0
HGVS NC_000017.10:g.41150765G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000477703.1,