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rs727502779

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs727502779(-;TCTGTGAAGCTGGGGAC)
Make rs727502779(TCTGTGAAGCTGGGGAC;TCTGTGAAGCTGGGGAC)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position35658037
GeneCCDC107, RMRP
is asnp
is mentioned by
dbSNPrs727502779
dbSNP (old)rs727502779
ClinGenrs727502779
ebirs727502779
HLIrs727502779
Exacrs727502779
Varsomers727502779
Maprs727502779
PheGenIrs727502779
Biobankrs727502779
1000 genomesrs727502779
hgdprs727502779
ensemblrs727502779
gopubmedrs727502779
geneviewrs727502779
scholarrs727502779
googlers727502779
pharmgkbrs727502779
gwascentralrs727502779
openSNPrs727502779
23andMers727502779
23andMe allrs727502779
SNP Nexus

SNPshotrs727502779
SNPdbers727502779
MSV3drs727502779
GWAS Ctlgrs727502779
Max Magnitude0
ClinVar
Risk rs727502779(GGGACTCTGTGAAGCTG;GGGACTCTGTGAAGCTG)
Alt rs727502779(GGGACTCTGTGAAGCTG;GGGACTCTGTGAAGCTG)
Reference Rs727502779(-;-)
Significance Pathogenic
Disease Metaphyseal dysplasia without hypotrichosis
Variation info
Gene CCDC107 RMRP
CLNDBN Metaphyseal dysplasia without hypotrichosis
Reversed 1
HGVS NC_000009.11:g.35658034_35658035insGTCCCCAGCTTCACAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000015287.28,