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rs727502775

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs727502775(-;-)
Make rs727502775(-;TACTCTGTGA)
Make rs727502775(TACTCTGTGA;TACTCTGTGA)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position35658030
GeneCCDC107, RMRP
is asnp
is mentioned by
dbSNPrs727502775
ebirs727502775
HLIrs727502775
Exacrs727502775
Varsomers727502775
Maprs727502775
PheGenIrs727502775
hapmaprs727502775
1000 genomesrs727502775
hgdprs727502775
ensemblrs727502775
gopubmedrs727502775
geneviewrs727502775
scholarrs727502775
googlers727502775
pharmgkbrs727502775
gwascentralrs727502775
openSNPrs727502775
23andMers727502775
23andMe allrs727502775
SNP Nexus

SNPshotrs727502775
SNPdbers727502775
MSV3drs727502775
GWAS Ctlgrs727502775
Max Magnitude0
ClinVar
Risk rs727502775(TACTCTGTGA;TACTCTGTGA)
Alt rs727502775(TACTCTGTGA;TACTCTGTGA)
Reference rs727502775(;)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene CCDC107 RMRP
CLNDBN Metaphyseal chondrodysplasia, McKusick type
Reversed 1
HGVS NC_000009.11:g.35658028_35658037dupTCACAGAGTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000015278.27,