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rs786200935

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786200935(-;-)
Make rs786200935(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position41869165
GeneMIR6797, RPS19
is asnp
is mentioned by
dbSNPrs786200935
dbSNP (classic)rs786200935
ClinGenrs786200935
ebirs786200935
HLIrs786200935
Exacrs786200935
Gnomadrs786200935
Varsomers786200935
LitVarrs786200935
Maprs786200935
PheGenIrs786200935
Biobankrs786200935
1000 genomesrs786200935
hgdprs786200935
ensemblrs786200935
geneviewrs786200935
scholarrs786200935
googlers786200935
pharmgkbrs786200935
gwascentralrs786200935
openSNPrs786200935
23andMers786200935
SNPshotrs786200935
SNPdbers786200935
MSV3drs786200935
GWAS Ctlgrs786200935
Max Magnitude0
ClinVar
Risk rs786200935(-;-)
Alt rs786200935(-;-)
Reference Rs786200935(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.42373235delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000033186.3,