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rs199476103

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199476103(A;G)
Make rs199476103(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position35657948
GeneRMRP
is asnp
is mentioned by
dbSNPrs199476103
ClinGenrs199476103
ebirs199476103
HLIrs199476103
Exacrs199476103
Varsomers199476103
Maprs199476103
PheGenIrs199476103
hapmaprs199476103
1000 genomesrs199476103
hgdprs199476103
ensemblrs199476103
gopubmedrs199476103
geneviewrs199476103
scholarrs199476103
googlers199476103
pharmgkbrs199476103
gwascentralrs199476103
openSNPrs199476103
23andMers199476103
23andMe allrs199476103
SNP Nexus

SNPshotrs199476103
SNPdbers199476103
MSV3drs199476103
GWAS Ctlgrs199476103
Max Magnitude0
[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar
Risk rs199476103(G;G)
Alt rs199476103(G;G)
Reference Rs199476103(A;A)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia Metaphyseal dysplasia without hypotrichosis not provided
Variation info
Gene CCDC107 RMRP
CLNDBN Metaphyseal chondrodysplasia, McKusick type Metaphyseal dysplasia without hypotrichosis not provided
Reversed 1
HGVS NC_000009.11:g.35657945T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015275.24, RCV000015276.29, RCV000313899.1,