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rs120074162

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074162(A;A)
Make rs120074162(A;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position49378592
GeneDYM
is asnp
is mentioned by
dbSNPrs120074162
ebirs120074162
HLIrs120074162
Exacrs120074162
Varsomers120074162
Maprs120074162
PheGenIrs120074162
hapmaprs120074162
1000 genomesrs120074162
hgdprs120074162
ensemblrs120074162
gopubmedrs120074162
geneviewrs120074162
scholarrs120074162
googlers120074162
pharmgkbrs120074162
gwascentralrs120074162
openSNPrs120074162
23andMers120074162
23andMe allrs120074162
SNP Nexus

SNPshotrs120074162
SNPdbers120074162
MSV3drs120074162
GWAS Ctlgrs120074162
Max Magnitude0
OMIM607461
Desc
Variant0003
Relatedalso
ClinVar
Risk rs120074162(A;A)
Alt rs120074162(A;A)
Reference rs120074162(T;T)
Significance Pathogenic
Disease Dyggve-Melchior-Clausen syndrome
Variation info
Gene DYM
CLNDBN Dyggve-Melchior-Clausen syndrome
Reversed 1
HGVS NC_000018.9:g.46904962A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003336.3,