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rs397507554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507554(A;A)
Make rs397507554(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position3575889
GeneRPS7
is asnp
is mentioned by
dbSNPrs397507554
ebirs397507554
HLIrs397507554
Exacrs397507554
Varsomers397507554
Maprs397507554
PheGenIrs397507554
hapmaprs397507554
1000 genomesrs397507554
hgdprs397507554
ensemblrs397507554
gopubmedrs397507554
geneviewrs397507554
scholarrs397507554
googlers397507554
pharmgkbrs397507554
gwascentralrs397507554
openSNPrs397507554
23andMers397507554
23andMe allrs397507554
SNP Nexus

SNPshotrs397507554
SNPdbers397507554
MSV3drs397507554
GWAS Ctlgrs397507554
Max Magnitude0
ClinVar
Risk rs397507554(A;A)
Alt rs397507554(A;A)
Reference rs397507554(G;G)
Significance Pathogenic
Disease Diamond-Blackfan anemia 8
Variation info
Gene RPS7
CLNDBN Diamond-Blackfan anemia 8
Reversed 0
HGVS NC_000002.11:g.3623479G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006525.5,