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rs786200936

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786200936(A;A)
Make rs786200936(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position41869722
GeneMIR6797, RPS19
is asnp
is mentioned by
dbSNPrs786200936
dbSNP (classic)rs786200936
ClinGenrs786200936
ebirs786200936
HLIrs786200936
Exacrs786200936
Gnomadrs786200936
Varsomers786200936
LitVarrs786200936
Maprs786200936
PheGenIrs786200936
Biobankrs786200936
1000 genomesrs786200936
hgdprs786200936
ensemblrs786200936
geneviewrs786200936
scholarrs786200936
googlers786200936
pharmgkbrs786200936
gwascentralrs786200936
openSNPrs786200936
23andMers786200936
SNPshotrs786200936
SNPdbers786200936
MSV3drs786200936
GWAS Ctlgrs786200936
Max Magnitude0
ClinVar
Risk rs786200936(A;A)
Alt rs786200936(A;A)
Reference Rs786200936(G;G)
Significance Pathogenic
Disease Diamond-Blackfan anemia 1
Variation info
Gene MIR6797 RPS19
CLNDBN Diamond-Blackfan anemia 1
Reversed 0
HGVS NC_000019.9:g.42373792G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033189.6,