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rs120074165

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074165(C;C)
Make rs120074165(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position49118866
GeneDYM
is asnp
is mentioned by
dbSNPrs120074165
ebirs120074165
HLIrs120074165
Exacrs120074165
Varsomers120074165
Maprs120074165
PheGenIrs120074165
hapmaprs120074165
1000 genomesrs120074165
hgdprs120074165
ensemblrs120074165
gopubmedrs120074165
geneviewrs120074165
scholarrs120074165
googlers120074165
pharmgkbrs120074165
gwascentralrs120074165
openSNPrs120074165
23andMers120074165
23andMe allrs120074165
SNP Nexus

SNPshotrs120074165
SNPdbers120074165
MSV3drs120074165
GWAS Ctlgrs120074165
Max Magnitude0
OMIM607461
Desc
Variant0010
Relatedalso
ClinVar
Risk rs120074165(C;C)
Alt rs120074165(C;C)
Reference rs120074165(T;T)
Significance Pathogenic
Disease Smith McCort dysplasia
Variation info
Gene DYM
CLNDBN Smith McCort dysplasia
Reversed 1
HGVS NC_000018.9:g.46645236A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003344.3,