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rs121964863

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964863(C;T)
Make rs121964863(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position162776341
GeneDDR2
is asnp
is mentioned by
dbSNPrs121964863
ebirs121964863
HLIrs121964863
Exacrs121964863
Varsomers121964863
Maprs121964863
PheGenIrs121964863
hapmaprs121964863
1000 genomesrs121964863
hgdprs121964863
ensemblrs121964863
gopubmedrs121964863
geneviewrs121964863
scholarrs121964863
googlers121964863
pharmgkbrs121964863
gwascentralrs121964863
openSNPrs121964863
23andMers121964863
23andMe allrs121964863
SNP Nexus

SNPshotrs121964863
SNPdbers121964863
MSV3drs121964863
GWAS Ctlgrs121964863
Max Magnitude0
OMIM191311
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964863(T;T)
Alt rs121964863(T;T)
Reference rs121964863(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.162746131C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013106.17,