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rs775414124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs775414124(C;C)
Make rs775414124(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position49332008
GeneDYM
is asnp
is mentioned by
dbSNPrs775414124
dbSNP (classic)rs775414124
ClinGenrs775414124
ebirs775414124
HLIrs775414124
Exacrs775414124
Gnomadrs775414124
Varsomers775414124
LitVarrs775414124
Maprs775414124
PheGenIrs775414124
Biobankrs775414124
1000 genomesrs775414124
hgdprs775414124
ensemblrs775414124
geneviewrs775414124
scholarrs775414124
googlers775414124
pharmgkbrs775414124
gwascentralrs775414124
openSNPrs775414124
23andMers775414124
SNPshotrs775414124
SNPdbers775414124
MSV3drs775414124
GWAS Ctlgrs775414124
Max Magnitude0
ClinVar
Risk rs775414124(C;C)
Alt rs775414124(C;C)
Reference Rs775414124(T;T)
Significance Pathogenic
Disease Dyggve-Melchior-Clausen syndrome
Variation info
Gene DYM
CLNDBN Dyggve-Melchior-Clausen syndrome
Reversed 0
HGVS NC_000018.9:g.46858378T>C
CLNSRC
CLNACC RCV000180341.1,