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rs878853178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs878853178(-;ACCACGTCCTCAGCTTC)
Make rs878853178(ACCACGTCCTCAGCTTC;ACCACGTCCTCAGCTTC)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position35658032
GeneCCDC107, RMRP
is asnp
is mentioned by
dbSNPrs878853178
dbSNP (old)rs878853178
ClinGenrs878853178
ebirs878853178
HLIrs878853178
Exacrs878853178
Gnomadrs878853178
Varsomers878853178
Maprs878853178
PheGenIrs878853178
Biobankrs878853178
1000 genomesrs878853178
hgdprs878853178
ensemblrs878853178
gopubmedrs878853178
geneviewrs878853178
scholarrs878853178
googlers878853178
pharmgkbrs878853178
gwascentralrs878853178
openSNPrs878853178
23andMers878853178
23andMe allrs878853178
SNP Nexus

SNPshotrs878853178
SNPdbers878853178
MSV3drs878853178
GWAS Ctlgrs878853178
Max Magnitude0
ClinVar
Risk rs878853178(ACCACGTCCTCAGCTTC;ACCACGTCCTCAGCTTC)
Alt rs878853178(ACCACGTCCTCAGCTTC;ACCACGTCCTCAGCTTC)
Reference Rs878853178(-;-)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene CCDC107 RMRP
CLNDBN Metaphyseal chondrodysplasia, McKusick type
Reversed 0
HGVS NC_000009.11:g.35658013_35658029dup17
CLNSRC OMIM Allelic Variant
CLNACC RCV000015289.27,