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rs120074163

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs120074163(A;T)
Make rs120074163(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position49257065
GeneDYM
is asnp
is mentioned by
dbSNPrs120074163
ebirs120074163
HLIrs120074163
Exacrs120074163
Varsomers120074163
Maprs120074163
PheGenIrs120074163
hapmaprs120074163
1000 genomesrs120074163
hgdprs120074163
ensemblrs120074163
gopubmedrs120074163
geneviewrs120074163
scholarrs120074163
googlers120074163
pharmgkbrs120074163
gwascentralrs120074163
openSNPrs120074163
23andMers120074163
23andMe allrs120074163
SNP Nexus

SNPshotrs120074163
SNPdbers120074163
MSV3drs120074163
GWAS Ctlgrs120074163
Max Magnitude0
OMIM607461
Desc
Variant0004
Relatedalso
ClinVar
Risk rs120074163(T;T)
Alt rs120074163(T;T)
Reference rs120074163(A;A)
Significance Pathogenic
Disease Dyggve-Melchior-Clausen syndrome
Variation info
Gene DYM
CLNDBN Dyggve-Melchior-Clausen syndrome
Reversed 1
HGVS NC_000018.9:g.46783435T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003337.3,