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rs727502774

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502774(G;T)
Make rs727502774(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position35657756
GeneCCDC107, RMRP
is asnp
is mentioned by
dbSNPrs727502774
ebirs727502774
HLIrs727502774
Exacrs727502774
Varsomers727502774
Maprs727502774
PheGenIrs727502774
hapmaprs727502774
1000 genomesrs727502774
hgdprs727502774
ensemblrs727502774
gopubmedrs727502774
geneviewrs727502774
scholarrs727502774
googlers727502774
pharmgkbrs727502774
gwascentralrs727502774
openSNPrs727502774
23andMers727502774
23andMe allrs727502774
SNP Nexus

SNPshotrs727502774
SNPdbers727502774
MSV3drs727502774
GWAS Ctlgrs727502774
Max Magnitude0
ClinVar
Risk rs727502774(T;T)
Alt rs727502774(T;T)
Reference rs727502774(G;G)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene CCDC107 RMRP
CLNDBN Metaphyseal chondrodysplasia, McKusick type
Reversed 1
HGVS NC_000009.11:g.35657753C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015277.23,