Have questions? Visit https://www.reddit.com/r/SNPedia

rs120074164

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074164(A;A)
Make rs120074164(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position49379693
GeneDYM
is asnp
is mentioned by
dbSNPrs120074164
ebirs120074164
HLIrs120074164
Exacrs120074164
Varsomers120074164
Maprs120074164
PheGenIrs120074164
hapmaprs120074164
1000 genomesrs120074164
hgdprs120074164
ensemblrs120074164
gopubmedrs120074164
geneviewrs120074164
scholarrs120074164
googlers120074164
pharmgkbrs120074164
gwascentralrs120074164
openSNPrs120074164
23andMers120074164
23andMe allrs120074164
SNP Nexus

SNPshotrs120074164
SNPdbers120074164
MSV3drs120074164
GWAS Ctlgrs120074164
Max Magnitude0
OMIM607461
Desc
Variant0006
Relatedalso
ClinVar
Risk rs120074164(A;A)
Alt rs120074164(A;A)
Reference rs120074164(G;G)
Significance Pathogenic
Disease Smith McCort dysplasia
Variation info
Gene DYM
CLNDBN Smith McCort dysplasia
Reversed 1
HGVS NC_000018.9:g.46906063C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003340.4,