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rs727502776

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs727502776(-;ACTACTCTGTGAAGC)
Make rs727502776(ACTACTCTGTGAAGC;ACTACTCTGTGAAGC)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position35658027
GeneCCDC107, RMRP
is asnp
is mentioned by
dbSNPrs727502776
ClinGenrs727502776
ebirs727502776
HLIrs727502776
Exacrs727502776
Varsomers727502776
Maprs727502776
PheGenIrs727502776
hapmaprs727502776
1000 genomesrs727502776
hgdprs727502776
ensemblrs727502776
gopubmedrs727502776
geneviewrs727502776
scholarrs727502776
googlers727502776
pharmgkbrs727502776
gwascentralrs727502776
openSNPrs727502776
23andMers727502776
23andMe allrs727502776
SNP Nexus

SNPshotrs727502776
SNPdbers727502776
MSV3drs727502776
GWAS Ctlgrs727502776
Max Magnitude0
ClinVar
Risk rs727502776(ACTACTCTGTGAAGC;ACTACTCTGTGAAGC)
Alt rs727502776(ACTACTCTGTGAAGC;ACTACTCTGTGAAGC)
Reference Rs727502776(-;-)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene CCDC107 RMRP
CLNDBN Metaphyseal chondrodysplasia, McKusick type
Reversed 1
HGVS NC_000009.11:g.35658025_35658039dupGCTTCACAGAGTAGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000015279.27,