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rs1060503688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503688(C;T)
Make rs1060503688(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position41869724
GeneMIR6797, RPS19
is asnp
is mentioned by
dbSNPrs1060503688
dbSNP (old)rs1060503688
ClinGenrs1060503688
ebirs1060503688
HLIrs1060503688
Exacrs1060503688
Gnomadrs1060503688
Varsomers1060503688
Maprs1060503688
PheGenIrs1060503688
Biobankrs1060503688
1000 genomesrs1060503688
hgdprs1060503688
ensemblrs1060503688
gopubmedrs1060503688
geneviewrs1060503688
scholarrs1060503688
googlers1060503688
pharmgkbrs1060503688
gwascentralrs1060503688
openSNPrs1060503688
23andMers1060503688
23andMe allrs1060503688
SNPshotrs1060503688
SNPdbers1060503688
MSV3drs1060503688
GWAS Ctlgrs1060503688
Max Magnitude0
ClinVar
Risk rs1060503688(T;T)
Alt rs1060503688(T;T)
Reference Rs1060503688(C;C)
Significance Probable-Pathogenic
Disease Diamond-Blackfan anemia
Variation info
Gene MIR6797 RPS19
CLNDBN Diamond-Blackfan anemia
Reversed 0
HGVS NC_000019.9:g.42373794C>T
CLNSRC
CLNACC RCV000462953.1,