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rs397514747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514747(A;A)
Make rs397514747(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position162754775
GeneDDR2
is asnp
is mentioned by
dbSNPrs397514747
ebirs397514747
HLIrs397514747
Exacrs397514747
Varsomers397514747
Maprs397514747
PheGenIrs397514747
hapmaprs397514747
1000 genomesrs397514747
hgdprs397514747
ensemblrs397514747
gopubmedrs397514747
geneviewrs397514747
scholarrs397514747
googlers397514747
pharmgkbrs397514747
gwascentralrs397514747
openSNPrs397514747
23andMers397514747
23andMe allrs397514747
SNP Nexus

SNPshotrs397514747
SNPdbers397514747
MSV3drs397514747
GWAS Ctlgrs397514747
Max Magnitude0
ClinVar
Risk rs397514747(A;A)
Alt rs397514747(A;A)
Reference rs397514747(G;G)
Significance Pathogenic
Disease Spondylometaepiphyseal dysplasia short limb-hand type
Variation info
Gene DDR2
CLNDBN Spondylometaepiphyseal dysplasia short limb-hand type
Reversed 0
HGVS NC_000001.10:g.162724565G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054530.24,