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rs121964865

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964865(C;T)
Make rs121964865(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position162776225
GeneDDR2
is asnp
is mentioned by
dbSNPrs121964865
ebirs121964865
HLIrs121964865
Exacrs121964865
Varsomers121964865
Maprs121964865
PheGenIrs121964865
hapmaprs121964865
1000 genomesrs121964865
hgdprs121964865
ensemblrs121964865
gopubmedrs121964865
geneviewrs121964865
scholarrs121964865
googlers121964865
pharmgkbrs121964865
gwascentralrs121964865
openSNPrs121964865
23andMers121964865
23andMe allrs121964865
SNP Nexus

SNPshotrs121964865
SNPdbers121964865
MSV3drs121964865
GWAS Ctlgrs121964865
Max Magnitude0
OMIM191311
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121964865(A,T;A,T)
Alt rs121964865(A,T;A,T)
Reference rs121964865(C;C)
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.162746015C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013108.24,