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rs387906533

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs387906533(AG;GC)
Make rs387906533(GC;GC)
ReferenceGRCh38 38.1/141
Chromosome9
Position35657927
GeneCCDC107, RMRP
is asnp
is mentioned by
dbSNPrs387906533
ebirs387906533
HLIrs387906533
Exacrs387906533
Varsomers387906533
Maprs387906533
PheGenIrs387906533
hapmaprs387906533
1000 genomesrs387906533
hgdprs387906533
ensemblrs387906533
gopubmedrs387906533
geneviewrs387906533
scholarrs387906533
googlers387906533
pharmgkbrs387906533
gwascentralrs387906533
openSNPrs387906533
23andMers387906533
23andMe allrs387906533
SNP Nexus

SNPshotrs387906533
SNPdbers387906533
MSV3drs387906533
GWAS Ctlgrs387906533
Max Magnitude0
ClinVar
Risk rs387906533(GC;GC)
Alt rs387906533(GC;GC)
Reference rs387906533(AG;AG)
Significance Pathogenic
Disease Anauxetic dysplasia
Variation info
Gene CCDC107 RMRP
CLNDBN Anauxetic dysplasia
Reversed 1
HGVS NC_000009.11:g.35657924_35657925delCTinsGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000015295.26,