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rs1057519624

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519624(G;T)
Make rs1057519624(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position3575816
GeneRPS7
is asnp
is mentioned by
dbSNPrs1057519624
dbSNP (old)rs1057519624
ClinGenrs1057519624
ebirs1057519624
HLIrs1057519624
Exacrs1057519624
Gnomadrs1057519624
Varsomers1057519624
Maprs1057519624
PheGenIrs1057519624
Biobankrs1057519624
1000 genomesrs1057519624
hgdprs1057519624
ensemblrs1057519624
gopubmedrs1057519624
geneviewrs1057519624
scholarrs1057519624
googlers1057519624
pharmgkbrs1057519624
gwascentralrs1057519624
openSNPrs1057519624
23andMers1057519624
23andMe allrs1057519624
SNPshotrs1057519624
SNPdbers1057519624
MSV3drs1057519624
GWAS Ctlgrs1057519624
Max Magnitude0
ClinVar
Risk rs1057519624(T;T)
Alt rs1057519624(T;T)
Reference Rs1057519624(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.3623406G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412538.1,