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rs386834002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs386834002(-;-)
Make rs386834002(-;GA)
ReferenceGRCh38 38.1/141
Chromosome17
Position59031949
GeneTRIM37
is asnp
is mentioned by
dbSNPrs386834002
ebirs386834002
HLIrs386834002
Exacrs386834002
Varsomers386834002
Maprs386834002
PheGenIrs386834002
hapmaprs386834002
1000 genomesrs386834002
hgdprs386834002
ensemblrs386834002
gopubmedrs386834002
geneviewrs386834002
scholarrs386834002
googlers386834002
pharmgkbrs386834002
gwascentralrs386834002
openSNPrs386834002
23andMers386834002
23andMe allrs386834002
SNP Nexus

SNPshotrs386834002
SNPdbers386834002
MSV3drs386834002
GWAS Ctlgrs386834002
Max Magnitude0
ClinVar
Risk rs386834002(;)
Alt rs386834002(;)
Reference rs386834002(GA;GA)
Significance Probable-Pathogenic
Disease Mulibrey nanism syndrome
Variation info
Gene TRIM37
CLNDBN Mulibrey nanism syndrome
Reversed 1
HGVS NC_000017.10:g.57109310_57109311delTC
CLNSRC ClinVar
CLNACC RCV000049979.1,


[PMID 17551331] A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy.