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rs386834004

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834004(C;C)
Make rs386834004(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position59088345
GeneTRIM37
is asnp
is mentioned by
dbSNPrs386834004
ebirs386834004
HLIrs386834004
Exacrs386834004
Varsomers386834004
Maprs386834004
PheGenIrs386834004
hapmaprs386834004
1000 genomesrs386834004
hgdprs386834004
ensemblrs386834004
gopubmedrs386834004
geneviewrs386834004
scholarrs386834004
googlers386834004
pharmgkbrs386834004
gwascentralrs386834004
openSNPrs386834004
23andMers386834004
23andMe allrs386834004
SNP Nexus

SNPshotrs386834004
SNPdbers386834004
MSV3drs386834004
GWAS Ctlgrs386834004
Max Magnitude0
ClinVar
Risk rs386834004(C;C)
Alt rs386834004(C;C)
Reference rs386834004(T;T)
Significance Probable-Pathogenic
Disease Mulibrey nanism syndrome
Variation info
Gene TRIM37
CLNDBN Mulibrey nanism syndrome
Reversed 1
HGVS NC_000017.10:g.57165706A>G
CLNSRC ClinVar
CLNACC RCV000049982.1,


[PMID 15885686] TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase.