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rs727502777

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs727502777(-;-)
Make rs727502777(-;CCTGAG)
Make rs727502777(CCTGAG;CCTGAG)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position35658023
GeneCCDC107, RMRP
is asnp
is mentioned by
dbSNPrs727502777
ebirs727502777
HLIrs727502777
Exacrs727502777
Varsomers727502777
Maprs727502777
PheGenIrs727502777
hapmaprs727502777
1000 genomesrs727502777
hgdprs727502777
ensemblrs727502777
gopubmedrs727502777
geneviewrs727502777
scholarrs727502777
googlers727502777
pharmgkbrs727502777
gwascentralrs727502777
openSNPrs727502777
23andMers727502777
23andMe allrs727502777
SNP Nexus

SNPshotrs727502777
SNPdbers727502777
MSV3drs727502777
GWAS Ctlgrs727502777
Max Magnitude0
ClinVar
Risk rs727502777(CCTGAGG,TACTCTGTGAAGCTGAGG;CCTGAGG,TACTCTGTGAAGCTGAGG)
Alt rs727502777(CCTGAGG,TACTCTGTGAAGCTGAGG;CCTGAGG,TACTCTGTGAAGCTGAGG)
Reference rs727502777(G;G)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene CCDC107 RMRP
CLNDBN Metaphyseal chondrodysplasia, McKusick type
Reversed 1
HGVS NC_000009.11:g.35658020_35658021insCTCAGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000015281.23,