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rs120074161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074161(C;G)
Make rs120074161(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position49430347
GeneDYM
is asnp
is mentioned by
dbSNPrs120074161
ebirs120074161
HLIrs120074161
Exacrs120074161
Varsomers120074161
Maprs120074161
PheGenIrs120074161
hapmaprs120074161
1000 genomesrs120074161
hgdprs120074161
ensemblrs120074161
gopubmedrs120074161
geneviewrs120074161
scholarrs120074161
googlers120074161
pharmgkbrs120074161
gwascentralrs120074161
openSNPrs120074161
23andMers120074161
23andMe allrs120074161
SNP Nexus

SNPshotrs120074161
SNPdbers120074161
MSV3drs120074161
GWAS Ctlgrs120074161
Max Magnitude0
OMIM607461
Desc
Variant0001
Relatedalso
ClinVar
Risk rs120074161(G,T;G,T)
Alt rs120074161(G,T;G,T)
Reference rs120074161(C;C)
Significance Pathogenic
Disease Dyggve-Melchior-Clausen syndrome
Variation info
Gene DYM
CLNDBN Dyggve-Melchior-Clausen syndrome
Reversed 1
HGVS NC_000018.9:g.46956717G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003334.3,