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rs121908391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908391(C;C)
Make rs121908391(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position59084045
GeneTRIM37
is asnp
is mentioned by
dbSNPrs121908391
dbSNP (classic)rs121908391
ClinGenrs121908391
ebirs121908391
HLIrs121908391
Exacrs121908391
Gnomadrs121908391
Varsomers121908391
LitVarrs121908391
Maprs121908391
PheGenIrs121908391
Biobankrs121908391
1000 genomesrs121908391
hgdprs121908391
ensemblrs121908391
geneviewrs121908391
scholarrs121908391
googlers121908391
pharmgkbrs121908391
gwascentralrs121908391
openSNPrs121908391
23andMers121908391
SNPshotrs121908391
SNPdbers121908391
MSV3drs121908391
GWAS Ctlgrs121908391
Max Magnitude0
OMIM605073
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908391(C;C)
Alt rs121908391(C;C)
Reference Rs121908391(G;G)
Significance Pathogenic
Disease Mulibrey nanism syndrome
Variation info
Gene TRIM37
CLNDBN Mulibrey nanism syndrome
Reversed 1
HGVS NC_000017.10:g.57161406C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005557.3,