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rs121964864

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964864(G;G)
Make rs121964864(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position162776264
GeneDDR2
is asnp
is mentioned by
dbSNPrs121964864
dbSNP (classic)rs121964864
ClinGenrs121964864
ebirs121964864
HLIrs121964864
Exacrs121964864
Gnomadrs121964864
Varsomers121964864
LitVarrs121964864
Maprs121964864
PheGenIrs121964864
Biobankrs121964864
1000 genomesrs121964864
hgdprs121964864
ensemblrs121964864
geneviewrs121964864
scholarrs121964864
googlers121964864
pharmgkbrs121964864
gwascentralrs121964864
openSNPrs121964864
23andMers121964864
SNPshotrs121964864
SNPdbers121964864
MSV3drs121964864
GWAS Ctlgrs121964864
Max Magnitude0
OMIM191311
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964864(G;G)
Alt rs121964864(G;G)
Reference Rs121964864(T;T)
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.162746054T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013107.24,