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rs386834003

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834003(C;T)
Make rs386834003(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position59028616
GeneTRIM37
is asnp
is mentioned by
dbSNPrs386834003
ebirs386834003
HLIrs386834003
Exacrs386834003
Varsomers386834003
Maprs386834003
PheGenIrs386834003
hapmaprs386834003
1000 genomesrs386834003
hgdprs386834003
ensemblrs386834003
gopubmedrs386834003
geneviewrs386834003
scholarrs386834003
googlers386834003
pharmgkbrs386834003
gwascentralrs386834003
openSNPrs386834003
23andMers386834003
23andMe allrs386834003
SNP Nexus

SNPshotrs386834003
SNPdbers386834003
MSV3drs386834003
GWAS Ctlgrs386834003
Max Magnitude0
ClinVar
Risk rs386834003(T;T)
Alt rs386834003(T;T)
Reference rs386834003(C;C)
Significance Probable-Pathogenic
Disease Mulibrey nanism syndrome
Variation info
Gene TRIM37
CLNDBN Mulibrey nanism syndrome
Reversed 1
HGVS NC_000017.10:g.57105977G>A
CLNSRC ClinVar
CLNACC RCV000049980.1,


[PMID 15108285] Novel mutations in the TRIM37 gene in Mulibrey Nanism.