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rs386833416

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833416(-;-)
Make rs386833416(-;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position59028460
GeneTRIM37
is asnp
is mentioned by
dbSNPrs386833416
ebirs386833416
HLIrs386833416
Exacrs386833416
Varsomers386833416
Maprs386833416
PheGenIrs386833416
hapmaprs386833416
1000 genomesrs386833416
hgdprs386833416
ensemblrs386833416
gopubmedrs386833416
geneviewrs386833416
scholarrs386833416
googlers386833416
pharmgkbrs386833416
gwascentralrs386833416
openSNPrs386833416
23andMers386833416
23andMe allrs386833416
SNP Nexus

SNPshotrs386833416
SNPdbers386833416
MSV3drs386833416
GWAS Ctlgrs386833416
Max Magnitude0
ClinVar
Risk rs386833416(;)
Alt rs386833416(;)
Reference rs386833416(G;G)
Significance Pathogenic
Disease Mulibrey nanism syndrome
Variation info
Gene TRIM37
CLNDBN Mulibrey nanism syndrome
Reversed 1
HGVS NC_000017.10:g.57105821delC
CLNSRC ClinVar
CLNACC RCV000049981.1,


[PMID 10888877] Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.