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rs796065036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796065036(-;T)
Make rs796065036(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position35657823
GeneCCDC107, RMRP
is asnp
is mentioned by
dbSNPrs796065036
dbSNP (old)rs796065036
ClinGenrs796065036
ebirs796065036
HLIrs796065036
Exacrs796065036
Gnomadrs796065036
Varsomers796065036
Maprs796065036
PheGenIrs796065036
Biobankrs796065036
1000 genomesrs796065036
hgdprs796065036
ensemblrs796065036
gopubmedrs796065036
geneviewrs796065036
scholarrs796065036
googlers796065036
pharmgkbrs796065036
gwascentralrs796065036
openSNPrs796065036
23andMers796065036
23andMe allrs796065036
SNP Nexus

SNPshotrs796065036
SNPdbers796065036
MSV3drs796065036
GWAS Ctlgrs796065036
Max Magnitude0
ClinVar
Risk rs796065036(T;T)
Alt rs796065036(T;T)
Reference Rs796065036(-;-)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene CCDC107 RMRP
CLNDBN Metaphyseal chondrodysplasia, McKusick type
Reversed 1
HGVS NC_000009.11:g.35657821dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000015291.25,